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Gene: Spink1 MGI:106202

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
serine peptidase inhibitor, Kazal type 1
Synonyms:
Spink3,  p12,  prostatic secretory glycoprotein

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Spink1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Spink1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... OMIM:167800
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Hereditary Chronic Pancreatitis
Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189

The table below shows human diseases predicted to be associated to Spink1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Villous atrophy, Abnormal intestine morphology, Dehydration OMIM:251850
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Alopecia, Malabsorption, Splenomegaly, Lymphad... ORPHA:100025
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski... ORPHA:2985
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Reticular Dysgenesis
Abnormality of neutrophils, Malabsorption, Dehydration, Weight loss, Skin ulcer, Leukopenia, Fail... ORPHA:33355
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... ORPHA:401911
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Dermoodontodysplasia
Sparse scalp hair, Melanocytic nevus, Hypohidrosis, Fingernail dysplasia, Thin skin, Trichodyspla... ORPHA:1660
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Skin dimple, Thin skin, Sparse hair, Intrauterine growth retardation, Failure to thrive, Aplasia/... ORPHA:261304
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... OMIM:615237
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Dehydration OMIM:601410
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... OMIM:607823
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Growth delay, Sparse hair OMIM:246500
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair ORPHA:1810
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Esophageal stricture, Erythematous plaque, Thin skin,... ORPHA:158673
Enteric Anendocrinosis
Cholestatic liver disease, Dehydration, Portal hypertension, Malabsorption ORPHA:83620
Dermoodontodysplasia
Thin skin, Nail dysplasia, Trichodysplasia OMIM:125640
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Transient Neonatal Diabetes Mellitus
Small for gestational age, Dehydration, Macroglossia, Intrauterine growth retardation, Failure to... ORPHA:99886
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Polyhydramnios, Duodenal atresia ORPHA:1203
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Malabsorp... ORPHA:2930
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cryptorchidism, Dehydration, Dysphagia, Intrauterine growth retardation, Failure to... OMIM:618958
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro... OMIM:617294
Acrogeria
Aplasia/Hypoplasia of the skin, Short stature, Skin ulcer, Fine hair, Thin skin ORPHA:2500
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Woolly hair, Chronic hepa... OMIM:614602
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Thrombocytopenia, Dehydration, Neutropenia, Failure to thrive, Pancre... ORPHA:79312
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration, Long eyelashes, Failure to thrive, Papule OMIM:616069
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Failure to thrive, Dehydration ORPHA:28
X-Linked Ehlers-Danlos Syndrome
Gastroesophageal reflux, Thin skin, Short stature ORPHA:75497
Oliver-Mcfarlane Syndrome
Alopecia, Severe short stature, Small for gestational age, Decreased response to growth hormone s... OMIM:275400
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth delay, Sparse or absent eyelash... ORPHA:217346
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Skin dimple, Atrophic scars, Sp... ORPHA:79133
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Generalized hirsutism, Polycystic ova... ORPHA:2348
Multiple Intestinal Atresia
Gastrointestinal atresia, Polyhydramnios, Duodenal stenosis ORPHA:2300
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Growth delay, Atrophic scars, Nail dystrophy, Sparse body hair, Aplas... ORPHA:79402
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Aplasia cutis congenit... ORPHA:79499
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Psoriasiform ... OMIM:243150
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Thin skin, Hypohidrosis ORPHA:1658
Chylous Ascites
Lymphedema, Subcutaneous nodule, Abnormal intestine morphology, Ascites, Pancreatitis ORPHA:1160
Bile Acid Malabsorption, Primary, 1
Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Atrophic ... ORPHA:89838
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Growth delay,... ORPHA:75496
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Rapp-Hodgkin Syndrome
Short stature, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Velopha... OMIM:129400
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Generalized hirsutism, Polycystic ova... ORPHA:79083
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Disproportionate short-limb short stature, Thin skin OMIM:259410
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... ORPHA:1008
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Thin skin, Hyperhidrosis OMIM:618905
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... ORPHA:3363
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hematochez... OMIM:615895
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Fragile nails OMIM:617364
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Short stature, Cryptorchidism, Truncal obesity, Intrauterine growth re... ORPHA:261483
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Prolidase Deficiency
Hepatomegaly, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Splenomegaly, Low a... ORPHA:742
Netherton Syndrome
Sparse scalp hair, Short stature, Sparse eyelashes, Malabsorption, Sparse eyebrow, Abnormal hair ... ORPHA:634
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia OMIM:613217
Congenital Short Bowel Syndrome
Intestinal hypoplasia, Sparse hair, Short stature, Intestinal malrotation ORPHA:2301
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Skin ulcer, Abno... ORPHA:525
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Malabsorption OMIM:606824
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Xerostomia, Hypohidrosis, Aplasia/Hypoplasia of the ey... ORPHA:238468
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Short stature, Sparse body hair, Obesity ORPHA:85274
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Failure to thrive, Thin skin ORPHA:157965
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Cafe-au-... OMIM:618625
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Truncal obesity, Increased circulating cortisol level, Thin skin, Primary hypercort... OMIM:610475
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita, Polyhydramnios, Congenital pyloric atresia OMIM:612138
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysp... OMIM:226700
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow OMIM:606242
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... ORPHA:69735
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux, Thin skin ORPHA:98892
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Melanocytic nevus, Nail pits, Fine hair, ... ORPHA:978
Cystinosis
Short stature, Portal hypertension, Malabsorption, Dehydration, Delayed puberty, Failure to thriv... ORPHA:213
Pancreatic Colipase Deficiency
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc... ORPHA:309108
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short stature, Moderately short stature, Cigarette-paper scars, High palate, Thin skin, Webbed ne... OMIM:612350
Autosomal Agammaglobulinemia
Malabsorption, Hepatitis, Dehydration, High palate, Neutropenia, Failure to thrive ORPHA:33110
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancreatic fibrosis, Small for gestational a... OMIM:557000
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Dehydration, Leukopenia, Pancreatitis, Anemia ORPHA:27
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Wolcott-Rallison Syndrome
Hepatomegaly, Short stature, Jaundice, Neutropenia, Dehydration, Central hypothyroidism, Growth d... ORPHA:1667
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Postnatal growth retardation, Thrombocytopenia, Fine hair, Premature graying of ha... OMIM:612199
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, ... OMIM:256500
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Thrombocytopenia, Dehydration, Neutropenia, Failure to... OMIM:606054
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morphology, Sparse ... ORPHA:1818
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... OMIM:601847
Cutis Laxa, Autosomal Recessive, Type Iiia
Short stature, Cryptorchidism, Thin skin, Sparse hair, Intrauterine growth retardation, Failure t... OMIM:219150
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Edema, Decreased circulating T4 concentration, Cryptorchidism, T... OMIM:608104
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the skin, Abnormal hair morpholo... ORPHA:2028
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Hypopigmented skin patches, Fingernail dysplasia, Sparse hair, On... ORPHA:2251
Focal Facial Dermal Dysplasia Type Iii
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair patt... ORPHA:1807
Moynahan Syndrome
Sparse hair, Alopecia, Short stature, Cachexia ORPHA:2574
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Edema, Malabsorption, Leukocytosis, Stea... ORPHA:2070
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ... ORPHA:699
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Supernumerary nipple, Cryptorchidism, Cleft palate, Fine hair, Aplastic/hypoplast... ORPHA:1812
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Hepatic fibrosis, Protein-... ORPHA:79319
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... ORPHA:59303
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia OMIM:227260
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Intestinal atresia, Anemia, Duodenal atresia ORPHA:3405
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Short stature, Polycystic ovaries, Ectopic anus ORPHA:1643
Mandibuloacral Dysplasia
Alopecia, Postnatal growth retardation, Abnormal tongue morphology, High palate, Thin skin, Spars... ORPHA:2457
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Intrauterine growt... ORPHA:1201
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:743
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Short stature, Intestinal malrotation, Cryptorchidism, High palate... OMIM:617602
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Truncal obesity, Increased circulating cortisol level, Macronodular adrenal ... OMIM:219080
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Dehydration, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytop... OMIM:251000
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Failure to thrive, Protein-losing enteropathy OMIM:615863
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Edema, Hepatic fibrosis, Protein-losing enteropathy, Cirrhosis, St... OMIM:602579
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dermal atrophy, Hyp... OMIM:103285
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... ORPHA:2470
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Pol... ORPHA:436252
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Thin skin, Striae distensae OMIM:225310
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Dehydration, Elevated serum 11-deoxycortisol, Failure to thrive, De... ORPHA:556030
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Gastroesophageal reflux, Dehydration OMIM:251120
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Cryptorchidism, Primary adrenal insufficiency, Dehydration,... OMIM:300200
Renal-Hepatic-Pancreatic Dysplasia 1
Preauricular pit, Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the ... OMIM:208540
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Failure to thrive, Decreased circulating aldosterone level, Dehydration OMIM:203400
Perlman Syndrome
Hepatomegaly, High, narrow palate, Cryptorchidism, Naevus flammeus of the eyelid, Abnormal pancre... ORPHA:2849
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:289504
Feingold Syndrome
Short stature, Abnormality of the spleen, Esophageal atresia, Annular pancreas, Duodenal atresia ORPHA:1305
Central Diabetes Insipidus
Failure to thrive, Dehydration, Weight loss ORPHA:178029
Corticosterone Methyloxidase Type Ii Deficiency
Growth delay, Failure to thrive, Decreased circulating aldosterone level, Dehydration OMIM:610600
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Edema, Pituitary adenoma, Obesity, Abdominal obesity, Thin skin, Hirsutism OMIM:219090
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cryptorchidism, Dehydration, Failure to thrive, Hirsutism OMIM:214150
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Dehydration, Hepatosplen... OMIM:219700
Heyn-Sproul-Jackson Syndrome
Sparse hair, Intrauterine growth retardation, Severe short stature, Decreased body weight OMIM:618724
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Pyloric stenosis, Fine hair, Thin skin, Sparse hair, Intrauterine growth retardation OMIM:614438
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ... ORPHA:113
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin ORPHA:745
Bazex-Dupre-Christol Syndrome
Pili torti, Furrowed tongue, Hypohidrosis, Coarse hair, Nevus, Sparse hair, Trichoepithelioma, Mi... OMIM:301845
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... OMIM:167800
Hawkinsinuria
Sparse hair, Failure to thrive, Hypothyroidism, Fine hair ORPHA:2118
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Curly hair, Failure to thrive, Short stature, Slow-growing hair, Polyhydramnios... OMIM:617506
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Noonan Syndrome 6
Curly hair, Juvenile myelomonocytic leukemia, Short stature, Edema, Polyhydramnios, Long eyebrows... OMIM:613224
Familial Cervical Artery Dissection
Thin skin, Striae distensae ORPHA:36382
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund... OMIM:211600
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Arthrochalasia Ehlers-Danlos Syndrome
Severe short stature, Thin skin ORPHA:1899
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los... OMIM:175500
Vipoma
Dehydration, Benign gastrointestinal tract tumors, Hepatomegaly, Intermittent jaundice, Hematoche... ORPHA:97282
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Even-Plus Syndrome
Severe short stature, Highly arched eyebrow, Synophrys, High palate, Sparse hair, Aplasia cutis c... OMIM:616854
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Dehydration, Failure to thrive, Decreased carniti... OMIM:212140
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, High palate, Dermal atrop... ORPHA:90153
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Pe... ORPHA:98813
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Anhidrosis, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/... OMIM:305100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Generalized hirsutism, Polycystic ova... ORPHA:280365
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Failure to thrive, Dehydration OMIM:602722
Marshall-Smith Syndrome
Failure to thrive, Thin skin, Generalized hirsutism, Protruding tongue ORPHA:561
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Preauricular pit, Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophage... OMIM:619227
Osteogenesis Imperfecta, Type Ii
Nonimmune hydrops fetalis, Small for gestational age, Disproportionate short-limb short stature, ... OMIM:166210
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Acrofacial Dysostosis Syndrome Of Rodriguez
Deep-set nails, High palate, Thin skin, Short stature OMIM:201170
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Growth delay, Polysplenia, Intrauterine gr... OMIM:617784
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Short stature, Failure to ... ORPHA:100
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic steato... ORPHA:275761
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Dehydration ORPHA:2290
Fetal Encasement Syndrome
Thin skin OMIM:613630
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Lamellar Ichthyosis
Short stature, Dehydration, Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Filippi Syndrome
Postnatal growth retardation, Cryptorchidism, Decreased body weight, Sparse hair, Intrauterine gr... OMIM:272440
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, White hair, Hyperhidrosis, Premature graying of ha... ORPHA:1775
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Atrophic scars, Dermal atrophy, Nail dystrophy, Abnormal toenail morphology,... ORPHA:89843
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Short stature, Absent facial hair, High, narrow palate, Obesity, Low posterio... ORPHA:2183
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Small for gestational age, Hepatic melanin-like lysosomal pigmentation, Jau... OMIM:208085
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Failure to thrive, Hyperaldosteronism, Dehydration OMIM:264350
Hypercalcemia, Infantile, 1
Failure to thrive, Dehydration, Weight loss OMIM:143880
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A... ORPHA:251393
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Intestinal perforation, Thrombocytopenia, Peritonitis, Rectal prolapse, Colonic ... ORPHA:90038
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Preauricular pit, Sacral dimple, Cryptorchidism, High, narrow palate, Sparse hair OMIM:273390
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft palate, Nail dystrophy, Trichodys... ORPHA:2890
Pancreatic Agenesis 2
Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancr... OMIM:615935
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... OMIM:129490
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Thin skin ORPHA:230839
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Synophrys, Hydrocele testis, Protein-losing enteropathy OMIM:618154
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Thin skin OMIM:225320
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Increased T cell ... ORPHA:263665
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... ORPHA:329971
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Edema, Perica... ORPHA:90362
Isovaleric Acidemia
Pancytopenia, Dehydration, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Aplasia/Hypoplasia of the skin, Failure to thrive, Portal ... ORPHA:974
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Elevated stool chloride content, Dehydration, Growth delay, Hyperaldosteronism, F... OMIM:214700
Pancreatic Agenesis 1
Failure to thrive, Exocrine pancreatic insufficiency, Oligohydramnios, Intrauterine growth retard... OMIM:260370
Recon Progeroid Syndrome
Short stature, Thrombocytopenia, Hyperconvex thumb nails, Absent lower eyelashes, Growth delay, A... OMIM:620370
Fanconi Anemia, Complementation Group F
Sacral dimple, Failure to thrive, Short stature, Decreased response to growth hormone stimulation... OMIM:603467
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Sparse scalp hair, Failure to thrive, Short stature, Cholangitis, Rhizomelia, Edema... OMIM:266920
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Epidermoid cyst... OMIM:614114
Blepharocheilodontic Syndrome 1
Small nail, Nail dysplasia, Sparse hair, Aplasia cutis congenita over the scalp vertex, High ante... OMIM:119580
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Failure to thrive, Dehydration OMIM:560000
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature, Duodenal atresia ORPHA:3004
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Abnormality of the subungual region, Gastrointestinal inflammation, Growth delay, A... ORPHA:79411
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Protruding tongue, Synophrys, Widow's peak, Upper eyelid edema, High palate, Thin skin, Thin eyeb... OMIM:617804
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Thin skin, Palmoplantar hyperhi... OMIM:150400
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Kaufman Oculocerebrofacial Syndrome
Short stature, Intestinal malrotation, Sparse eyebrow, High palate, Thin skin, Sparse hair, Preau... OMIM:244450
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Polyhydramnios, Hepatic fibrosis, Sparse hair, Intrauterine growth... OMIM:222470
Shigellosis
Failure to thrive in infancy, Intestinal perforation, Thrombocytopenia, Peritonitis, Leukocytosis... ORPHA:810
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Bohring-Opitz Syndrome
Bilateral cleft palate, Sacral dimple, Short stature, Intestinal malrotation, Supernumerary nippl... OMIM:605039
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Failure to thrive, Hyperaldosteronism, Dehydration OMIM:177735
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Small for gestational age, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Short stature, Abnormal hair morphology, Dermal atrophy, Thin skin, Delayed puberty, Na... ORPHA:90154
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Ehlers-Danlos Syndrome, Periodontal Type, 1
Intestinal perforation, Atrophic scars, Thin skin, Hiatus hernia OMIM:130080
Vascular Hyalinosis
Hematochezia, Premature graying of hair, Protein-losing enteropathy, Malabsorption OMIM:277175
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... ORPHA:202
Alg6-Cdg
Jaundice, Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Failure to thrive ORPHA:79320
Focal Dermal Hypoplasia
Macule, Alopecia, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Gastroesophag... ORPHA:2092
Progeroid Syndrome, Petty Type
Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in... ORPHA:2963
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... ORPHA:398063
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Aplasia/Hypoplasia of the skin, Edema, Splenomegaly, Subcutaneous nodule, Weight loss ORPHA:33577
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Short stature, Decreased response to growth hormone stimulation test,... OMIM:615280
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm... OMIM:609981
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Short stature, Xerostomia, Hypopigmented skin patches,... ORPHA:2907
Glass Syndrome
Short stature, Cleft palate, High palate, Thin skin, Long eyelashes, Nail dysplasia, Sparse hair OMIM:612313
Superficial Epidermolytic Ichthyosis
Thin skin, Edema ORPHA:455
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Short stature, Sparse eyelashes, High, narrow palate, Low anterio... ORPHA:1787
De Barsy Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, High palate, Thin skin, Sparse hair,... ORPHA:2962
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Intrauterine growth retardati... OMIM:616353
Short Syndrome
Small for gestational age, Birth length less than 3rd percentile, Ovarian cyst, Thin skin, Intrau... OMIM:269880
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Familial Cold Urticaria
Dehydration, Hyperhidrosis ORPHA:47045
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Short stature, Thrombocytopenia, Generalized hy... ORPHA:3322
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Oculoskeletodental Syndrome
Hepatomegaly, Short stature, Small for gestational age, Splenomegaly, Cryptorchidism, Low anterio... OMIM:618440
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Tetrasomy 12P
Short stature, Cachexia, Abnormal soft palate morphology, Sparse eyebrow, Hypohidrosis, Sparse ha... ORPHA:884
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia, Celiac disease, Primary adrenal insufficiency, Hypopigmented skin p... ORPHA:3143
Gracile Bone Dysplasia
Failure to thrive, Short stature, Asplenia, Hypoplastic spleen, Ascites, Ankyloglossia OMIM:602361
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Polysplenia, Duodenal atresia OMIM:619608
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Polyhydramnios, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiect... ORPHA:1655
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis, Fine hair, Frontal upsweep of hair, Sparse hair OMIM:300406
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymp... OMIM:235255
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Short stature, Splenomegaly, Thrombocytopenia, Enterocolitis, Fail... OMIM:616050
Dermatosparaxis Ehlers-Danlos Syndrome
Severe short stature, Hiatus hernia, Gastroesophageal reflux, Thin skin, Esophagitis ORPHA:1901
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Cleft palate, Hypohidrosis, Spa... ORPHA:2316
Campomelia, Cumming Type
Polycystic liver disease, Short stature, Lymphedema, Pancreatic cysts, Polysplenia OMIM:211890
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... ORPHA:1366
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Thrombocytopenia, Dehydration, Neutropenia, Failure to thrive, Anemia OMIM:251110
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Steatorrhea OMIM:607748
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Chylomicron Retention Disease
Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat... OMIM:246700
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology OMIM:613502
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... OMIM:129900
Bone Marrow Failure Syndrome 3
Aplastic anemia, Pancreatic steatosis, Neutropenia, Sparse hair, Short stature, Cryptorchidism, H... OMIM:617052
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Celiac disease, Postnatal growth retardation, Thyroiditis, Delayed puberty OMIM:618985
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can... OMIM:608615
Microsporidiosis
Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Peritonit... ORPHA:2552
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Brittle hair, Short stature, Bilateral cryptorchidism, Pyloric st... OMIM:616395
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Short stature, Sparse facial hair, Sparse axillary hair, Small for gestational age, Intrauterine ... OMIM:608154
Campomelia, Cumming Type
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Cleft p... ORPHA:1318
Premature Aging Syndrome, Penttinen Type
Skin nodule, Corneal stromal edema, Thin skin, Dermal atrophy, Sparse hair, Keloids, Failure to t... OMIM:601812
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cr... ORPHA:3051
Cardiac-Valvular Ehlers-Danlos Syndrome
Short stature, Atrophic scars, High palate, Thin skin, Thick eyebrow ORPHA:230851
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, Leukopenia, Neutropenia, Intrauterine grow... OMIM:616271
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration, Zollinger... ORPHA:652
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... ORPHA:79303
Aredyld
Generalized hypotrichosis OMIM:207780
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Short stature, Neutropenia, Steatorrhea, High palate, Hyperechog... OMIM:617941
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... ORPHA:210122
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Sparse eyelashes, Short stature, Hypoplastic pilosebaceous units, Sparse eyebr... OMIM:601345
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Increased circulating cortisol level, Thin skin, Primary hypercortisolism, Stria... OMIM:610489
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... ORPHA:30391
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair OMIM:615278
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Leukocytosis, Lipid accumulation in hepatocyte... ORPHA:20
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Esophageal stenosis, Congenital pyloric atresia, Neona... OMIM:619817
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Cryptorchidism, Decreased circulating aldosterone level, De... ORPHA:90791
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Anteriorly placed anu... OMIM:151050
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration, Weight loss, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thri... ORPHA:99885
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the ... ORPHA:181
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... OMIM:614162
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, He... OMIM:304790
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy, Decreas... OMIM:606367
Xeroderma Pigmentosum
Macule, Alopecia, Short stature, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patche... ORPHA:910
Stuve-Wiedemann Syndrome 1
Short stature, Hyperhidrosis, Smooth tongue, Thin skin, Dysphagia, Sparse hair, Milia, Oligohydra... OMIM:601559
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Paronychia, Failure to thrive, Onychogryposis OMIM:614328
Intellectual Developmental Disorder, Autosomal Recessive 5
Short stature, Small for gestational age, Postnatal growth retardation, Synophrys, Sparse hair, T... OMIM:611091
Fanconi Anemia, Complementation Group S
Short stature, Low anterior hairline, Narrow palate, Ovarian neoplasm, Long eyelashes, Ovarian ca... OMIM:617883
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypothyroidism, Hyperthyroidism, Gastroesophageal reflux, Thin skin ORPHA:449291
Trigonocephaly 1
Preauricular skin tag, High, narrow palate, Synophrys, Meckel diverticulum OMIM:190440
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Nail dystrophy, Congenital localized absence of skin OMIM:132000
Atypical Werner Syndrome
Abnormal hair whorl, Premature graying of hair, Hepatic steatosis, Alopecia, Aplasia/Hypoplasia o... ORPHA:79474
Cushing Disease
Sparse scalp hair, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leukocytosis, Hirsu... ORPHA:96253
Cardiocranial Syndrome, Pfeiffer Type
Short stature, Cryptorchidism, High, narrow palate, Abnormal hair whorl, Growth delay, Sparse hai... ORPHA:2872
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Sparse hair, Sparse body hair OMIM:618535
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Anal stenosis, Fair hair... OMIM:250250
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... OMIM:602400
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Hereditary Mucoepithelial Dysplasia
Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Sparse hair ORPHA:1839
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Small for gestational age, Cryptorchidism, Fine hair, Growth delay, Delayed pubert... OMIM:616817
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Short stature, Sparse eyelashes, Small for gestation... OMIM:268400
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... ORPHA:79100
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... OMIM:614941
Meier-Gorlin Syndrome 1
Small for gestational age, Hyperconvex nail, Cryptorchidism, Cleft palate, Birth length less than... OMIM:224690
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of... ORPHA:2850
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... ORPHA:90291
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Failure to thrive, Edema, Skin erosion, Esophageal stricture, Paronychia, Dehydration, ... ORPHA:79404
Congenital Contractural Arachnodactyly
Intestinal malrotation, Tracheoesophageal fistula, High palate, Slender build, Duodenal atresia ORPHA:115
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Nail pits, Premature ... OMIM:127550
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow ORPHA:3406
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Mirage Syndrome
Lymphopenia, Short stature, Cryptorchidism, Esophageal stricture, Thrombocytopenia, Leukopenia, G... OMIM:617053
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Short stature, Cryptorchidism, Growth delay, Thin skin, Anemia ORPHA:2719
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Large f... OMIM:229850
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Spar... OMIM:300953
Anauxetic Dysplasia 2
Short stature, Macroglossia, Small nail, Nail dysplasia, Sparse hair, Intrauterine growth retarda... OMIM:617396
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Adams-Oliver Syndrome 6
Portal hypertension, Hypoplastic toenails, Splenomegaly, Esophageal varix, Hepatic fibrosis, Apla... OMIM:616589
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Leukocytosis, Dehydration, Weight loss, Thrombocytosis ORPHA:134
2Q32Q33 Microdeletion Syndrome
Short stature, Cleft palate, Fine hair, Growth delay, High palate, Sparse hair, Decreased testicu... ORPHA:251019
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Esophageal varix, Cuti... OMIM:616028
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Thrombocytopenia, Dehydration, Neutropenia, Failure to thrive, Anemia OMIM:251100
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Hypoplastic fingernail, Postnatal growth retardation, Cryptorchidism, Dehydration, ... ORPHA:96191
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased body weight, Esophageal stenosis, Failure to thrive, Anal fissure, Nevus, Skin erosion,... ORPHA:89842
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Dysphagia ORPHA:89844
Joubert Syndrome 37
Hepatomegaly, Short stature, Cryptorchidism, Obesity, High palate, Sparse hair, Decreased testicu... OMIM:619185
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Short stature, Trichoschisis, Small for gestational age, Ma... OMIM:601675
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... ORPHA:1666
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Failure to thrive, Dehydration OMIM:615453
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Familial Renal Glucosuria
Elevated hemoglobin A1c, Moderate postnatal growth retardation, Dehydration ORPHA:69076
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Hypothyroidism, H... OMIM:616263
Alopecia Antibody Deficiency
Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ... ORPHA:1006
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Delayed puberty, Neutropenia, Xan... OMIM:232220
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Nail dystrophy, Bone marr... OMIM:615190
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Failure to thrive, Short stature, Polyhydramnios, Lymphedema, P... OMIM:613563
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:620126
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Small for gestational age, Proportionate short stature, Synophrys, Low anterior hairline, Fine ha... ORPHA:391408
Ruijs-Aalfs Syndrome
Short stature, Hepatocellular carcinoma, Premature graying of hair, Decreased body weight, Sparse... OMIM:616200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:620125
Aredyld Syndrome
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation, Sparse body... ORPHA:1133
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Polyhydramnios, Asplenia, Esophageal atresia, Gastrointestinal... OMIM:164280
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption ORPHA:79302
Duodenal Atresia
Duodenal atresia OMIM:223400
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Neutropenia, Dysphagia, Sparse hair, Intrauterine growth retardation, ... OMIM:618253
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Growth delay, Frontal upswe... OMIM:617798
Xp22.13P22.2 Duplication Syndrome
Short stature, Polycystic ovaries, Truncal obesity, High palate, Sparse hair, Macroorchidism, Hig... ORPHA:284180
Cystinosis, Nephropathic
Hepatomegaly, Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Oral-pharyng... OMIM:219800
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Facial edema, Periorbital edema, Prostatitis... ORPHA:449432
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Anhidrosis, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys... OMIM:604536
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth delay, Thin skin, Spar... ORPHA:920
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Chylomicron Retention Disease
Increased hepatocellular lipid droplets, Acanthocytosis, Growth delay, Steatorrhea, Fat malabsorp... ORPHA:71
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Small for gestational age, Recurrent pancreatitis, Thin skin, Dysphagia, Spars... OMIM:606721
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Dermal atrophy OMIM:136300
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Esophageal atresia, Congenital pyloric... OMIM:226730
Acces Syndrome
Sparse scalp hair, Supernumerary nipple, Tracheoesophageal fistula, Failure to thrive, Aplasia cu... OMIM:619959
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short stature, Sparse eyelashes, Postnatal growth retardation, Cryptorchidism, Sparse eyebrow, Gr... OMIM:613026
Syndromic Diarrhea
Villous atrophy, Brittle hair, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepat... ORPHA:84064
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Short stature, Cirrhosis, Sparse hair, Failure to thrive, Fragile nails OMIM:242150
Esophageal Atresia
Barrett esophagus, Small for gestational age, Intestinal malrotation, Polyhydramnios, Failure to ... ORPHA:1199
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin vesicle, ... ORPHA:257
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Geroderma Osteodysplastica
Growth delay, Severe short stature, Thin skin ORPHA:2078
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymph... OMIM:235510
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... OMIM:214950
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Colonic Atresia
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... ORPHA:1198
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Anhidrosis, Splenomegaly, Hypohidrosis, Aplasia of the sweat gla... OMIM:612132
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Abnormal liv... ORPHA:456312
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Short stature OMIM:619985
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Thin skin OMIM:112250
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm ORPHA:50944
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Short uvula, Hydrops fetalis, Cleft palate, Fine hair, High palate, Hepatic fibros... OMIM:614091
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Polyhydramnios, Absent eyelashes, Skin erosion, Sparse eyebrow, Sub... OMIM:275210
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Agenesis of pineal gland, Numerous nevi, Short stature, Lymphedema, Cryptorchi... ORPHA:536471
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Eosinophilic infiltration of the esophagus, Malabsorption, Growth delay,... OMIM:615508
Helsmoortel-Van Der Aa Syndrome
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, High, narro... OMIM:615873
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Atelosteogenesis Type I
Rhizomelia, Polyhydramnios, Malrotation of colon, Cleft palate, Neonatal short-trunk short statur... ORPHA:1190
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Gastroesophageal reflux, Thin skin, Esophagitis, Median cleft li... ORPHA:3342
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short stature, Obesity, Sparse body hair, Decreased testicular size ORPHA:2234
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Stillbirth, Duodenal atr... OMIM:243605
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Atrophic scars, High palate, Thin skin, Oligohydramnios ORPHA:536467
Adams-Oliver Syndrome 4
Hypoplastic toenails, Aplasia cutis congenita, Toenail dysplasia OMIM:615297
Arterial Tortuosity Syndrome
High palate, Bifid uvula, Thin skin, Hiatus hernia OMIM:208050
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth... OMIM:300514
Mosaic Variegated Aneuploidy Syndrome 1
Short stature, Small for gestational age, Postnatal growth retardation, Cryptorchidism, Oligohydr... OMIM:257300
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss... ORPHA:679
Braddock-Carey Syndrome 1
Curly hair, Cleft palate, Anteriorly placed anus, Growth delay, Sparse hair, Thrombocytopenia OMIM:619980
Noonan Syndrome 14
Curly hair, Short stature, Polyhydramnios, Sparse eyebrow, Cryptorchidism, High, narrow palate, L... OMIM:619745
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Intestinal malrotation, Generalized h... ORPHA:1553
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Short stature, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Short stature, Hypertonic dehydration OMIM:304800
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Furrowed tongue, Hypohidrosis, Nail dystrophy, Sparse hair,... ORPHA:140936
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Short stature, Polyhydramnios, Increased nuchal translucency, Cleft palate,... ORPHA:1052
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Brittle hair, Short stature, Slow-growing hair, Failur... ORPHA:1340
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... ORPHA:2929
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Jaundice, Hydrops fetalis, Dehydration, Growth delay, Neutropenia, Intraute... ORPHA:79282
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Duodenal ulcer, Pituita... ORPHA:913
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... OMIM:234050
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Epidermoid cyst, Pilomatrixoma, Adenomatous colonic... ORPHA:247806
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Familial Adenomatous Polyposis
Duodenal polyposis, Epidermoid cyst, Multiple gastric polyps, Adenocarcinoma of the small intesti... ORPHA:733
Distal Deletion 12Q
Unilateral cryptorchidism, Short stature, Failure to thrive in infancy, High, narrow palate, Pitu... ORPHA:96149
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Oral-pharyngeal dysphagia, Gastrointestinal dysmotilit... ORPHA:2131
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Hyperparathyroidism, Short stature, Malabsorption, Cryptorchidism, Narrow pala... ORPHA:534
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Failure to thrive, High palate, Dysphagia OMIM:620001
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Hyperhidrosis OMIM:613576
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Epidermoid cyst, Ampulla of Vater carcinoma, Piloma... ORPHA:79665
Fryns Syndrome
Hypoplastic fingernail, Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Cryptorchi... ORPHA:2059
Agel Amyloidosis
Tongue atrophy, Edema, Xerostomia, Blepharochalasis, Abnormal spleen morphology, Nail dystrophy, ... ORPHA:85448
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Focal dermal aplasia/hypoplasia, Cleft palate OMIM:164180
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Pancytopenia, Autoimmune hemoly... OMIM:614700
Gand Syndrome
Sparse hair OMIM:615074
Harlequin Ichthyosis
Dehydration ORPHA:457
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Short stature, Sparse eyelashes, Failure to thrive, ... OMIM:264090
Flynn-Aird Syndrome
Alopecia, Cachexia, Primary adrenal insufficiency, Skin ulcer, Dermal atrophy ORPHA:2047
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Numerous nevi, Curly hair, Short stature, Slow-growing hair, Polyhydramnios, Abse... OMIM:115150
Jacobsen Syndrome
Short stature, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Thrombocytopenia, Abnorm... ORPHA:2308
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Thick eyebrow, Low anterior hairline, Upper eyelid edema, Long eyelashes, Sparse hair, Hirsutism OMIM:616819
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Polyhydramnios, Pancreatic fibrosis, Short stature OMIM:615503
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Intrauterine growth retardation, Small for gestational age, Sparse hair OMIM:610756
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... OMIM:209920
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Bainbridge-Ropers Syndrome
Thick eyebrow, Intestinal malrotation, Supernumerary nipple, Polyhydramnios, Highly arched eyebro... OMIM:615485
Microform Holoprosencephaly
Short stature, Hypothyroidism, Cleft palate, Intrauterine growth retardation, Panhypopituitarism,... ORPHA:280200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Cryptorchid... ORPHA:168558
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Polyhydramnios, Cryptorchidism, Cleft palate, Intrauterine growth retardation, Fai... OMIM:247200
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Neonatal death, Skin erosion, Anony... OMIM:609638
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Malabsorption, Dehydration, Growth delay, Failu... ORPHA:47159
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Polyhydramnios, Nonimmune hydrops fetalis, Asplenia, Esophageal atresia, ... OMIM:265380
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair, Short stature ORPHA:1883
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Cryptorchid... ORPHA:289548
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Highly arched eyebrow, Asymmetric, linear skin defects, Nail dystrophy, Aplasia cu... OMIM:300887
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Short stature, Hyperconvex nail, Gastroesophageal reflux, Sparse hair, Failure to thrive OMIM:619721
Cat Eye Syndrome
Preauricular pit, Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal at... OMIM:115470
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Obesity, Malabsorption OMIM:600955
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Short stature, Sparse eyebrow OMIM:619989
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Desmosterolosis
Severe short stature, Aplasia/Hypoplasia of the skin, Intestinal malrotation, Splenomegaly, Submu... ORPHA:35107
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Scarring alopecia of scalp, Skin erosi... ORPHA:158684
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Skin ulcer, Palmoplantar hyperhidrosis, Ski... ORPHA:659
Werner Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Short stature, Abnormal hair whorl, Skin ulcer... ORPHA:902
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Anteriorly placed anus, Hypoplastic nipples, Thin skin, Sparse ... OMIM:200110
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Short stature, Cryptorchidism, Widow's peak, Furrowed tongue, High palate, Gastroesophageal reflu... OMIM:616975
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Failure to thrive, Short stature, Polyhydramnios, Large for gestat... OMIM:607721
Desbuquois Syndrome
Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo... ORPHA:1425
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Polyhydramnios, Pancreatitis, Dysphagia, Me... OMIM:155310
Spondyloocular Syndrome
Unilateral cryptorchidism, Short stature, Duodenal ulcer, Lymphedema, Low posterior hairline, Web... OMIM:605822
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Growth delay, T lymphocytopenia, Decreased proport... OMIM:619510
Serkal Syndrome
Growth delay, Malrotation of small bowel, Oligohydramnios ORPHA:139466
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr... OMIM:613451
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail ORPHA:384
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the lymphatic system, Obesity, Narrow pa... ORPHA:870
Rothmund-Thomson Syndrome Type 1
Short stature, Alopecia totalis, Small for gestational age, Aplastic anemia, Facial edema, Crypto... ORPHA:221008
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Short stature, Cachexia, High, narrow palate, Rec... ORPHA:79076
Mednik Syndrome
Jejunal atresia, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Neonatal death, Volvulus... OMIM:609313
Scarf Syndrome
Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipples, Webbed neck,... ORPHA:3134
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair ORPHA:177
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Bilateral cleft lip and palate, Hypohidrosis, Dystrop... ORPHA:3253
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Congenital Tracheal Stenosis
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... ORPHA:141127
Papillon-Lefèvre Syndrome
Liver abscess, Abnormal fingernail morphology, Cigarette-paper scars, Hypopigmented skin patches,... ORPHA:678
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Rhizomelia ORPHA:1515
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Polyhydramnios, Edema, Postnatal growth retardation, Sparse eyebrow... OMIM:302960
Poikiloderma With Neutropenia
Short stature, Edema, Sparse eyebrow, Splenomegaly, Low posterior hairline, Growth delay, Leukope... OMIM:604173
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi... ORPHA:567983
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia OMIM:185070
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... OMIM:619381
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Short stature, Skin ulcer, Fine hair, Hypohidrosis, Sparse hair ORPHA:1806
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin, Cachexia, Abnormal hair morphology, Weight loss, Premature grayin... ORPHA:1979
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Small for gestational age, Cryptorchidism, Esophageal atresia, Throm... OMIM:227646
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Splenomegaly, Thrombocytopenia, Fine hair, Truncal obesity, Leukopen... OMIM:222700
Menkes Disease
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation OMIM:309400
Dyrk1A-Related Intellectual Disability Syndrome
Short stature, Anterior pituitary hypoplasia, Small for gestational age, Cryptorchidism, Pyloric ... ORPHA:464306
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Borjeson-Forssman-Lehmann Syndrome
Short stature, Cryptorchidism, Truncal obesity, Sparse hair, Decreased testicular size, Thick eye... ORPHA:127
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Cryptorchidism, Hematochezia, Anasarca, Protein-losing ente... OMIM:618183
Trichorhinophalangeal Syndrome, Type I
Short stature, Thin nail, Slow-growing hair, Concave nail, Narrow palate, Leukonychia, Growth del... OMIM:190350
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... ORPHA:2108
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Lymphopenia, Follicular hyperplasia, Paratracheal lymphadenopathy,... OMIM:615934
Renal Hypoplasia
Small for gestational age, Dehydration ORPHA:93101
Pyruvate Carboxylase Deficiency
Growth delay, Hepatomegaly, Failure to thrive, Dehydration ORPHA:3008
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Polyhydramnios, Cryptorchidism, Oligohydramnios, Birth length less tha... ORPHA:464311
Kyphoscoliotic Ehlers-Danlos Syndrome
Short stature, Synophrys, Atypical scarring of skin, High palate, Thin skin ORPHA:536545
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Hyper... OMIM:257980
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Incontinentia Pigmenti
Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits... OMIM:308300
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Hyperthyroidism, Short stature, Decreased response to growth hormone stimulati... ORPHA:3455
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Duodenal stenosis ORPHA:2547
Infantile Nephropathic Cystinosis
Growth delay, Failure to thrive, Abnormality of thyroid physiology, Dehydration ORPHA:411629
Macs Syndrome
Alopecia, Palpebral edema, Short stature, Sparse eyebrow, Cryptorchidism, High palate, Decreased ... OMIM:613075
Opitz-Kaveggia Syndrome
Skin tags, Anal stenosis, Sacral dimple, Short stature, Intestinal malrotation, Cryptorchidism, P... OMIM:305450
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hypohidrosis, Sparse hair,... ORPHA:1005
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Short stature, Polyhydramnios, Growth delay, Failure to thrive ORPHA:223
Rothmund-Thomson Syndrome Type 2
Short stature, Alopecia totalis, Small for gestational age, Aplastic anemia, Facial edema, Crypto... ORPHA:221016
Colchicine Poisoning
Leukocytosis, Alopecia, Dehydration ORPHA:31824
Chromosome 5P13 Duplication Syndrome
Sparse hair, Small for gestational age, High palate, Low posterior hairline OMIM:613174
Trichorhinophalangeal Syndrome Type 1
Short stature, Sparse eyelashes, Sparse eyebrow, Leukonychia, High palate, Sparse hair, Fragile n... ORPHA:77258
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, High palate, Nail dysplasia, Small nail, Failure to thrive, Bifid uvula OMIM:601110
Revesz Syndrome
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, ... OMIM:268130
Kid Syndrome
Failure to thrive, Psoriasiform dermatitis, Sparse eyelashes, Postnatal growth retardation, Scarr... ORPHA:477
Scedosporiosis
Subcutaneous nodule, Pleural empyema, Abnormal jejunum morphology ORPHA:449280
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Growth delay, High palate, Dermal atrophy, Sparse hair OMIM:608612
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Reticulocytosis, Lymphopenia, Orchitis, Jaundice, Odyn... ORPHA:99826
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Short stature, Small for gestational age, Polyhydramnios, Dehydration, Hyper... OMIM:601678
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Hepatic steatosis, Decreased proportion of CD4-positive T ce... OMIM:619573
Tarp Syndrome
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Intra... OMIM:311900
Bohring-Opitz Syndrome
Short stature, Synophrys, Naevus flammeus of the eyelid, Hypertrichosis, Cleft palate, Severe fai... ORPHA:97297
Barber-Say Syndrome
Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ... ORPHA:1231
Dend Syndrome
Elevated hemoglobin A1c, Dehydration ORPHA:79134
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Hypothyroidism, Patchy alopecia, Short stature OMIM:617763
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Epidermoid cyst, Early balding, Adenomatous colonic polyposis, Desmoid tumors... ORPHA:261584
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... OMIM:610199
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Gapo Syndrome
Hepatomegaly, Alopecia, Epidermoid cyst, Sparse eyelashes, Sparse eyebrow, High, narrow palate, G... OMIM:230740
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Short stature, Frontal balding, Primary adrenal insufficien... ORPHA:90794
Orofaciodigital Syndrome I
Dry hair, Alopecia, Short stature, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue no... OMIM:311200
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Short stature, Thick hair, Postnatal growth retardation, Coarse hair, High palate, Sparse hair, I... ORPHA:357074
Cholera
Achlorhydria, Dehydration ORPHA:173
Rothmund-Thomson Syndrome
Aplasia/Hypoplasia of the skin, Short stature, Sparse eyelashes, Alopecia totalis, Small for gest... ORPHA:2909
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal... ORPHA:288
Neuroleptic Malignant Syndrome
Leukocytosis, Dehydration, Hyperhidrosis, Dysphagia, Thrombocytosis, Thrombocytopenia ORPHA:94093
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Short stature, Protruding tongue, Postnatal growth retardation, Long eyelashes, Sp... OMIM:212066
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Polyhydramnios, Asplenia, Posteriorly placed anus, Hypoplastic toenails, Biliary at... OMIM:306955
Aceruloplasminemia
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... ORPHA:48818
Oculocerebrocutaneous Syndrome
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Cryptorchidi... ORPHA:1647
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Molluscoid pseudotumors, Thin skin OMIM:225400
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Dehydration, Growth delay, Failure to thrive ORPHA:18
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Short stature, Polycystic ovaries OMIM:268020
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Beckwith-Wiedemann Syndrome
Hepatomegaly, Nevus flammeus, Polycythemia, Polyhydramnios, Large for gestational age, Cryptorchi... ORPHA:116
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail, Aplasia cutis congenita, Oligohydramnios OMIM:614219
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Short stature, Cleft palate, Atrophic scars, Decreased body weight, Sparse hair OMIM:615349
Olmsted Syndrome 1
Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un... OMIM:614594
Eec Syndrome
Aplasia/Hypoplasia of the skin, Short stature, Decreased response to growth hormone stimulation t... ORPHA:1896
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Cleft palate, Patchy ... OMIM:106260
Oligomeganephronia
Small for gestational age, Dehydration ORPHA:2260
Hamamy Syndrome
Hypoparathyroidism, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptorchidism, Low post... OMIM:611174
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive OMIM:617988
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis OMIM:611376
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst... ORPHA:1657
Cartilage-Hair Hypoplasia
Hepatomegaly, Sacral dimple, Rhizomelia, Aganglionic megacolon, Malabsorption, Sparse eyebrow, Ab... ORPHA:175
Autosomal Recessive Multiple Pterygium Syndrome
Aplasia/Hypoplasia of the skin, Short stature, Nevus, Cryptorchidism, Cleft palate, Low posterior... ORPHA:2990
Familial Adenomatous Polyposis 1
Duodenal polyposis, Epidermoid cyst, Adenomatous colonic polyposis, Multiple gastric polyps, Desm... OMIM:175100
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Short stature, Small for gestational age, Failure to thrive in infancy, Submucous c... OMIM:618891
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Familial Adenomatous Polyposis 4
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy, Hypohidrosis ORPHA:100976
Cockayne Syndrome B
Hepatomegaly, Dry hair, Severe short stature, Small for gestational age, Anhidrosis, Postnatal gr... OMIM:133540
Osteogenesis Imperfecta, Type I
Thin skin OMIM:166200
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Hamartoma of tongue, Lip pit, Pancreatic cysts, Abnormality of the pancre... ORPHA:2750
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Failure to thrive, Preauricular skin ... OMIM:601358
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Oral-pharyngeal dysphagia, Postnatal growth retardation, High, narrow palate, Apla... OMIM:300966
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Synophrys, Hyposegmentation of neutrophil nuclei, Sparse hair OMIM:620075
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lymphoc... OMIM:619991
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Submucous cleft hard pa... ORPHA:1071
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:276152
Juvenile Nephropathic Cystinosis
Growth delay, Failure to thrive, Hypothyroidism, Dehydration ORPHA:411634
Dopamine Beta-Hydroxylase Deficiency
Anemia, Dehydration ORPHA:230
Jacobsen Syndrome
Abnormal eyelash morphology, Cryptorchidism, Pyloric stenosis, Intrauterine growth retardation, A... OMIM:147791
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Acanthocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Dec... ORPHA:96180
Feingold Syndrome Type 1
Jejunal atresia, Short stature, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duode... ORPHA:391641
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Proportionate short stature, Spar... OMIM:234100
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Cryptorchidism, Truncal obesity, Disproportionate short-limb short stature, Sparse... OMIM:616541
Monosomy 22
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Hyperhidrosi... ORPHA:96123
Leprosy
Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Abnormality of the spleen, Ski... ORPHA:548
Bartter Syndrome Type 4
Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, Severe failure to thr... ORPHA:89938
Rodrigues Blindness
Sparse hair, Short stature, Fine hair OMIM:268320
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Narrow palate, High palate, Disproportionate short-limb short stature, Spa... OMIM:618644
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia... OMIM:620005
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, High palate OMIM:614105
Stiff Skin Syndrome
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Short stature ORPHA:2833
1P36 Deletion Syndrome
Macule, Abnormal eyebrow morphology, Short stature, Abnormality of the spleen, Cryptorchidism, Py... ORPHA:1606
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair OMIM:224900
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Hypermobile Ehlers-Danlos Syndrome
Malabsorption, Gastrointestinal dysmotility, Subcutaneous nodule, Anorectal anomaly, Atypical sca... ORPHA:285
Dyskeratosis Congenita, X-Linked
Ridged nail, Pterygium of nails, Hyperhidrosis, Premature graying of hair, Leukopenia, Split nail... OMIM:305000
Zygomycosis
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Periorbital edema, Peritonitis, Mediastinal ... ORPHA:73263
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Cleft pal... ORPHA:2886
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Alopecia, Growth delay, Anemia, Atrophic scars, Smooth... ORPHA:79396
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Short stature, Tracheoesophageal fistula, Sparse body hair ORPHA:3068
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Furrowed tongue, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Spa... OMIM:158310
White-Sutton Syndrome
Short stature, Obesity, Cleft palate, Gastroesophageal reflux, High palate, Sparse hair, Intraute... OMIM:616364
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Neonatal death, Intra... OMIM:601186
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Pericardial effusion, Thrombocytopenia, Abnormality of the lympha... ORPHA:464329
Adams-Oliver Syndrome 3
Hypoplastic fifth fingernail, Aplasia cutis congenita OMIM:614814
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft palate, ... OMIM:263520
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Short stature, Polyhydramnios, Preauricular skin tag, Rectal prolapse, Pseudohypop... OMIM:617157
Loeys-Dietz Syndrome
Atypical scarring of skin, High palate, Thin skin, Bifid uvula, Striae distensae ORPHA:60030
Basel-Vanagaite-Smirin-Yosef Syndrome
Cleft palate, Furrowed tongue, Gastroesophageal reflux, High palate, Sparse hair, Nevus flammeus ... OMIM:616449
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Preauricular pit, Absent nipple, Aplasia of the thymus, Short stature, Polyhydramnios, Sparse eye... OMIM:620186
Scalp-Ear-Nipple Syndrome
Palpebral edema, Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis,... OMIM:181270
Warburg-Cinotti Syndrome
Joint swelling, High palate, Thin skin OMIM:618175
Vascular Ehlers-Danlos Syndrome
Macule, Alopecia, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, Crypto... ORPHA:286
Marshall Syndrome
Short stature, Sparse eyelashes, Sparse eyebrow, Cleft palate, Hypohidrosis, High palate, Sparse ... ORPHA:560
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Nephronophthisis 13
Pancreatic cysts, Growth delay, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Rhizomelia, Small for gestational age, Growth delay, Small nail, Nail dysplasia, Sparse hair, Fai... OMIM:614813
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Toriello-Lacassie-Droste Syndrome
Aplasia/Hypoplasia of the skin, Aganglionic megacolon, Polyhydramnios, Growth delay, Failure to t... ORPHA:3339
Coffin-Siris Syndrome 1
Dry hair, High palate, Short stature, Cryptorchidism, Intussusception, Hypertrichosis, Duodenal u... OMIM:135900
Cranioectodermal Dysplasia 3
Rhizomelia, Short stature, Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair OMIM:614099
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Abnormal tongue morphology, Hypohidrosis, Anoperineal fistula, Nail dystrophy, Spa... ORPHA:158668
Branchiooculofacial Syndrome
Postauricular pit, Premature graying of hair, Gastroesophageal reflux, Sparse hair, Ectopic thymu... OMIM:113620
Short Syndrome
Sparse hair, Alopecia, Severe short stature, Weight loss ORPHA:3163
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... ORPHA:2232
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Short stature, Polyhydramnios, Dehydration, Hyperaldosteronism, Failur... OMIM:241200
Bartter Syndrome, Type 3
Hyperaldosteronism, Dehydration OMIM:607364
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Short stature, Thin nail, Small for gestational age, Gastrointestinal dysmotility, Gr... OMIM:617799
Johanson-Blizzard Syndrome
Anteriorly placed anus, Hepatic fibrosis, Aplasia cutis congenita of scalp, Abnormality of the na... OMIM:243800
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Short stature, Sparse lateral eyebrow OMIM:190351
Trisomy 8P
Sacral dimple, Cryptorchidism, Malrotation of small bowel, Cleft palate, Low posterior hairline, ... ORPHA:264450
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short stature, Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline,... OMIM:250410
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism... ORPHA:564
Keutel Syndrome
Alopecia, Short stature, Dermal atrophy ORPHA:85202
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Cryptorchidism, Breast hypoplasia, Cleft palate, Sparse body hair, Hypoplasia ... ORPHA:432
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... ORPHA:284
Cranioectodermal Dysplasia 2
Hepatomegaly, Short stature, Cholangitis, Rhizomelia, Polyhydramnios, Sparse eyebrow, Splenomegal... OMIM:613610
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Hypothyroi... OMIM:212065
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Esophag... ORPHA:391487
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... ORPHA:512
Whim Syndrome
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, ... ORPHA:51636
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Short stature, Hypoplastic toenails, Cleft palate, Intrauterine growth retardation, Annular pancr... ORPHA:488642
Costello Syndrome
Deep-set nails, Curly hair, Short stature, Thin nail, Polyhydramnios, Concave nail, Pyloric steno... OMIM:218040
Scarf Syndrome
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Webbed neck, ... OMIM:312830
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... ORPHA:79480
Wolf-Hirschhorn Syndrome
Accessory spleen, Preauricular pit, Sacral dimple, Short stature, Small for gestational age, High... OMIM:194190
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Intestinal malrotation, Biliary atresia, Oligohydra... ORPHA:2255
Diets-Jongmans Syndrome
Cryptorchidism, Short stature, Polyhydramnios, Duodenal atresia OMIM:618846
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Woolly hair, Atypical scarr... ORPHA:565
Marshall-Smith Syndrome
Brittle hair, Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Pyl... OMIM:602535
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, Cryptorchidism, Cleft palate, Fine hair, High palate, Sparse hair, ... ORPHA:251028
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Jaundice, Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of ex... ORPHA:93111
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Cryptorchidism, Severe failure to thrive, Intrauterine growth retardation, ... ORPHA:468631
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic cysts, Jaundice, Bile du... OMIM:208500
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Growth delay, H... OMIM:618500
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Short stature, Fine hair, Sparse hair, Failure to thrive OMIM:257850
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Alopecia, Sparse scalp hair, Postnatal growth retardation, Growth delay, High palat... OMIM:248370
Cockayne Syndrome A
Hepatomegaly, Dry hair, Anhidrosis, Short stature, Splenomegaly, Cryptorchidism, Atypical scarrin... OMIM:216400
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Asplenia, Abdominal situs inversus, Intrauterine growth retardation, Abdo... OMIM:270100
Fanconi Anemia
Leukopenia, Abnormality of the liver, High palate, Short stature, Aplasia/Hypoplasia of the uvula... ORPHA:84
Meier-Gorlin Syndrome 7
Anal stenosis, Short stature, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed ... OMIM:617063
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Annular pancreas, High palate OMIM:618162
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Palpebral edema, Sparse eyebrow, Splenomegaly, Growth delay, Macroglo... OMIM:252500
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Cryptorchidism, Cleft palate, Coarse hair, High palate, Gastroesopha... OMIM:607812
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... OMIM:608156
Junctional Epidermolysis Bullosa With Pyloric Atresia
Polyhydramnios, Congenital pyloric atresia, Nail dystrophy, Aplasia cutis congenita, Intestinal a... ORPHA:79403
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, High palate, Intrauterine growth retardation, Panc... ORPHA:556955
Charge Syndrome
Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Polyhyd... OMIM:214800
Dermatomyositis
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Edema, Ga... ORPHA:221
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Gastroesophageal reflux, Nail dysplasia, S... OMIM:616682
Primary Fanconi Renotubular Syndrome
Growth delay, Dehydration, Weight loss ORPHA:3337
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands, Lymphedema OMIM:300291
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Coarse hair, High palate, Sparse hair ORPHA:50814
17Q12 Microdeletion Syndrome
Cryptorchidism, Short stature, Oligohydramnios, Pancreatic aplasia ORPHA:261265
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hepatic steatosis, Dermal atrophy, Cryptorchidism OMIM:615381
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Abnormal mesentery morphology, Malrotation of small bowel, Cleft palate, Atrophic... ORPHA:2953
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Esophageal stricture, Atypical scarring of skin, Inflammation of ... ORPHA:2908
Alg9-Cdg
Hepatomegaly, Villous atrophy, Rhizomelia, Pericardial effusion, Hydrops fetalis, Hypertrichosis,... ORPHA:79328
Restrictive Dermopathy
Short nail, Polyhydramnios, Aplasia/Hypoplastia of the eccrine sweat glands, Skin erosion, Sparse... ORPHA:1662
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Short stature, Eosinophilia, Edema of the dorsum of hands, Pancreati... OMIM:274000
Iniencephaly
Polyhydramnios, Rhizomelia, Anal atresia, Duodenal atresia ORPHA:63259
Kindler Syndrome
Ridged nail, Anal stenosis, Esophageal stenosis, Spotty hypopigmentation, Dermal atrophy, Dysphag... OMIM:173650
Teebi-Shaltout Syndrome
Short stature, Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairli... OMIM:272950
Phosphoribosylpyrophosphate Synthetase Superactivity
Short stature, Small for gestational age, Cryptorchidism, High palate, Sparse hair OMIM:300661
Hereditary Chronic Pancreatitis
Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Cutis Marmorata Telangiectatica Congenita
Aplasia/Hypoplasia of the skin, Blue nevus, Skin erosion, Multiple cafe-au-lait spots, Intrauteri... ORPHA:1556
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Cryptorchidism, Fi... ORPHA:444072
Hawkinsinuria
Sparse hair, Failure to thrive OMIM:140350
Intellectual Developmental Disorder, Autosomal Dominant 68
High palate, Gastroesophageal reflux, Sparse hair, Intrauterine growth retardation, Hepatic steat... OMIM:619934
Townes-Brocks Syndrome 1
Preauricular pit, Anal stenosis, Rectoperineal fistula, Small for gestational age, Cryptorchidism... OMIM:107480
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Severe short stature, Aganglionic megacolon, Thin fingernail, Abnormal ... ORPHA:2273
Plasminogen Deficiency, Type I
Duodenal ulcer OMIM:217090
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair, Moderate postnatal growth retardation OMIM:118650
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Acanthocytosis, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Steat... ORPHA:14
Lyme Disease
Joint swelling, Skin nodule, Dermal atrophy ORPHA:91546
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Cleft palate, Fine h... ORPHA:2710
Cranioectodermal Dysplasia 1
Hepatomegaly, Rhizomelia, Thin nail, Malformation of the hepatic ductal plate, Short nail, Slow-g... OMIM:218330
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Weaver Syndrome
Deep-set nails, Thin nail, Cryptorchidism, Melanocytic nevus, Hydrocele testis, Fine hair, Sparse... OMIM:277590
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Highly arched eyebrow, Large for gestational age, Cleft palate, Fine hair, Hydrocel... OMIM:280000
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow OMIM:609460
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Abnormal intrahepatic bile duct morphology, Premature graying o... ORPHA:363618
Myhre Syndrome
Short stature, Small for gestational age, Pericardial effusion, Cryptorchidism, Obesity, Cleft pa... OMIM:139210
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Short stature, Intestinal malrotation, Supernumerary nipple, Hiatus he... OMIM:305600
Roberts Syndrome
Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Cleft palate, High palate, Severe i... ORPHA:3103
Pancreatic And Cerebellar Agenesis
Severe intrauterine growth retardation, Pancreatic hypoplasia, Failure to thrive, Anemia, Pancrea... OMIM:609069
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Short stature, Elevated circulating luteinizing hormone level, Sparse axillary hair, Enlarged pol... ORPHA:90796
Schinzel-Giedion Syndrome
Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Myeloid leukemia, Generalized ... ORPHA:798
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Disproportionate short statu... OMIM:210710
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Cachexia, Dermal atrophy, Ascites OMIM:610965
Fraser Syndrome 1
Abnormal small intestine morphology, Absent eyebrow, Absent eyelashes, Cryptorchidism, Extension ... OMIM:219000
Dysosteosclerosis
Aplasia/Hypoplasia of the skin, Short stature ORPHA:1782
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Severe short stature, Aplasia/Hypoplasia of the skin, Failure to thrive, Abnormal ... ORPHA:2556
Neurocardiofaciodigital Syndrome
Short stature, Small for gestational age, Sparse eyebrow, High palate, Sparse hair, Failure to th... OMIM:619869
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Short stature, Elevated hemoglobin A1c, Postnatal growth retardation, Sparse eyebro... OMIM:619127
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... OMIM:301043
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Cleft palate, Fine hair, High palate, Sparse hair, Fragile nails OMIM:164200
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Small for gestational age, Anteriorly placed anus, Int... ORPHA:1708
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Short stature, Anterior pituitary hypoplasia, Polyhydramnios, Highly arched ey... OMIM:619841
Oculoectodermal Syndrome
Epidermal nevus, Supernumerary nipple, Lymphedema, Preauricular skin tag, Pineal cyst, Growth del... OMIM:600268
Simpson-Golabi-Behmel Syndrome, Type 1
Preauricular pit, Hepatomegaly, Exaggerated median tongue furrow, Intestinal malrotation, Supernu... OMIM:312870
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Polycythemia OMIM:193300
Barber-Say Syndrome
Absent nipple, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Velopharyngeal insufficiency, Lo... OMIM:209885
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Palpebral edema, Hypohidrosis, Breast aplasia, Sparse hair ORPHA:2036
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Gastrointestinal inflammation, Growth delay, Iron deficiency anemia, Atrophic scars... ORPHA:79408
Naxos Disease
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Sparse scalp hair, Mild postnatal growth retardation, Bilateral cryptorchidism... OMIM:150230
Chime Syndrome
Skin ulcer, Acute leukemia, Cleft palate, Fine hair, Sparse hair ORPHA:3474
Hypoplasminogenemia
Duodenal ulcer, Abnormality of the ovary ORPHA:722
Acute Radiation Syndrome
Skin ulcer, Dermal atrophy, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Atrophic scars, High palate,... OMIM:601776
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Asymmetric, linear skin defects, Cleft palate, Anteriorly placed anus, Colonic atr... OMIM:309801
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Pallister-Killian Syndrome
Edema of the dorsum of feet, Polyhydramnios, Anteriorly placed anus, Sparse hair, Bifid uvula, Al... OMIM:601803
Linear Skin Defects With Multiple Congenital Anomalies 3
Asymmetric, linear skin defects, Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Aplasia/Hypoplasia of the skin, Cryptorchidism, High, narrow palate, Submuc... ORPHA:2658
Renpenning Syndrome 1
Brittle hair, Short stature, Cleft palate, High palate, Sparse hair, Decreased testicular size, A... OMIM:309500
Xeroderma Pigmentosum, Complementation Group A
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus OMIM:278700
Viss Syndrome
Chronic gastritis, Polyhydramnios, High, narrow palate, High palate, Gastroesophageal reflux, Bro... OMIM:619472
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Biliary tract abn... OMIM:268300
Wrinkly Skin Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, High palate, Sparse hair, Intrauteri... ORPHA:2834
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Severe short stature, Cryptorchidism, Submucous cleft hard palate, Loss of eyelashes, C... ORPHA:2636
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Dermal atrophy, Cachexia ORPHA:220295
Genitopatellar Syndrome
Sparse scalp hair, Anal stenosis, Polyhydramnios, Cryptorchidism, Malrotation of small bowel, Ant... OMIM:606170
Down Syndrome
Aganglionic megacolon, Short stature, Protruding tongue, Duodenal stenosis, Acute megakaryocytic ... OMIM:190685
Wrinkly Skin Syndrome
Short stature, Short nail, Cryptorchidism, High palate, Sparse hair, Intrauterine growth retardat... OMIM:278250
Subacute Cutaneous Lupus Erythematosus
Annular cutaneous lesion, Dermal atrophy ORPHA:163525
Xeroderma Pigmentosum, Variant Type
Growth delay, Dermal atrophy OMIM:278750
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Intrauterine growth retardation, Severe short stature, Small bowel diverticula ORPHA:90349
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Dermal atrophy, Severe short stature, Hypermelanotic macule OMIM:278800
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Decreased testicular size, Fine hair OMIM:241080
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Hypermelanotic macule, Alopecia totalis, Loss of eyelashes, Weight loss, Dystroph... ORPHA:740
Baller-Gerold Syndrome
Severe short stature, Short stature, Anomalous splenoportal venous system, Cleft palate, Perineal... OMIM:218600
Primrose Syndrome
Sparse scalp hair, Short stature, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, S... OMIM:259050
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Intrauterine growth retardation, Small bowel diverticula ORPHA:90348
Menke-Hennekam Syndrome 1
Cryptorchidism, Cleft palate, High palate, Gastroesophageal reflux, Long eyelashes, Sparse hair, ... OMIM:618332

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Spink1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Spink1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Spink10tm1a(KOMP)Wtsi Spink14tm1e(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Spink14tm1e(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Spink10tm1a(KOMP)Wtsi Spink14tm1e(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Spink10tm1a(KOMP)Wtsi Spink14tm1e(KOMP)Wtsi PMC6459510
Expressional and functional analyses of epididymal SPINKs in mice. Gene expression patterns : GEP (December 2018) Spink12em1(IMPC)J 30590135
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Spink10tm1a(KOMP)Wtsi Spink14tm1e(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Spink1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Spink1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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