Gene Summary

Name:
spectrin beta, non-erythrocytic 1
Synonyms:
beta fodrin,  Spnb-2,  spectrin G,  brain spectrin,  elf3,  elf1,  9930031C03Rik,  non-erythrocytic,  Spnb2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body weight Sptbn1tm1a(EUCOMM)Wtsi HET Early adult 8.00×10-06
decreased circulating serum albumin level Sptbn1tm1a(EUCOMM)Wtsi HET Early adult 1.03×10-05

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote Ambiguous
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 100% (2 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 120 images

Human diseases caused by Sptbn1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sptbn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Hypodontia, Premature loss of primary teeth,... ORPHA:50944
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... ORPHA:157798
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Macroglossia, Ovarian neoplasm, Glossitis,... ORPHA:2221
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Mul... ORPHA:163634
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Hepatome... ORPHA:83469
Subependymoma
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... ORPHA:251639
Ependymoma
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... ORPHA:251636
Congenital Macroglossia
Hypothyroidism, Macroglossia, Abnormal hepatic glycogen storage, Neurofibromas ORPHA:2430
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Rhabdomyosarcoma, Embryonal, 2
Goiter, Pleuropulmonary blastoma, Multinodular goiter, Nephroblastoma, Ovarian thecoma, Thyroid n... OMIM:180295
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Hirsutism, Female external genitalia... ORPHA:206484
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Neoplasm, Breast carcinoma, Type II diabetes mellitu... ORPHA:902
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... OMIM:604169
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Zimmermann-Laband Syndrome
Bulbous nose, Sensorineural hearing impairment, High palate, Wide nose, Abnormal external genital... ORPHA:3473
Mast Cell Sarcoma
Hepatomegaly, Hypoplasia of the ear cartilage, Sarcoma, Splenomegaly ORPHA:66661
Fanconi Anemia, Complementation Group S
Prominent nasal bridge, Low anterior hairline, Narrow palate, Sparse hair, Ovarian neoplasm, Long... OMIM:617883
Chylomicron Retention Disease
Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemi... OMIM:246700
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta, Carcinoma, Unilateral vestibular Schwannoma, Sensorin... OMIM:603641
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Cowden Syndrome 1
Hydrocele testis, Narrow mouth, Thyroiditis, Breast carcinoma, Ovarian carcinoma, Colonic diverti... OMIM:158350
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Abnormal circulating hormone concentration, Pleural effusi... ORPHA:314478
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Bazex Syndrome
Yellow nails, Lip hyperpigmentation, Liposarcoma, Neoplasm, Lung adenocarcinoma, Nail dystrophy ORPHA:166113
Infantile Myofibromatosis
Abnormality of the kidney, Gingival fibromatosis, Abnormal hair morphology, Benign neoplasm of th... ORPHA:2591
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Posterior helix pit, Diastasis recti, Renal cortical cysts, Enlarge... OMIM:130650
Acquired Ichthyosis
Multiple myeloma, Lymphoma, Neoplasm, Sarcoma, Renal insufficiency ORPHA:454
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Glycosuria, Stage 5 ch... OMIM:618913
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circula... ORPHA:103910
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Hamartoma, Ovarian neoplasm, Neoplasm of the thyroid gland, Neoplasm of the breast, Visceral angi... ORPHA:137608
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated hepatic transaminase, Extrahepatic cholestasis, Colon cancer, Exocri... ORPHA:1333
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Lower limb muscle weakness, Spinal cord tumor, Pelvic mass, Uterine neoplasm, J... ORPHA:370348
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Increased urinary cortisol level, Abnormal circulating dehydroe... ORPHA:1501
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Lhermitte-Duclos Disease
Macroglossia, Ovarian neoplasm, Neoplasm of the thyroid gland, Fibroadenoma of the breast, Trichi... ORPHA:65285
Ovarian Fibroma
Peritonitis, Basal cell carcinoma, Abnormality of the ovary, Odontogenic keratocysts of the jaw, ... ORPHA:314473
Frasier Syndrome
Focal segmental glomerulosclerosis, Gonadal dysgenesis, Stage 5 chronic kidney disease, Nephrotic... OMIM:136680
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Polyembryoma
Neoplasm of head and neck, Abdominal mass, Abnormality of the endocrine system, Abnormality of th... ORPHA:180229
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia, Squamous cell carcinoma, Multinodular goiter OMIM:618373
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Sparse axillary hair, Abnormal internal genitalia, Delayed puberty, Female extern... ORPHA:251510
Atkin-Flaitz Syndrome
Macrotia, Everted lower lip vermilion, Macroorchidism, Abnormality of the dentition, Thick vermil... ORPHA:1193
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Yellow nails, Onycholysis, Pleuritis, Bronchiectasis, Nep... ORPHA:662
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Visceral angiomatosis, ... ORPHA:296
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Myocardial fibrosis, Interl... ORPHA:2302
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Coffin-Siris Syndrome 2
Low anterior hairline, Macroglossia, Small nail, Absent fifth toenail, Abnormal heart morphology,... OMIM:614607
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Alpha-Heavy Chain Disease
Lymphoma, Hepatomegaly, Ascites, Alopecia, Splenomegaly, Abnormality of the small intestine, Mala... ORPHA:100025
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Clitoral hypertrophy, Dysgerminoma, Hirsutism, Sparse axil... OMIM:613762
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Bulbous nose, Macrotia, Macroorchidism, Thick lower lip vermilion, Obesity OMIM:300238
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal hair quantity, Abnormal testis morphology, Abnormal calcium-phosphate regulating... ORPHA:457059
Familial Male-Limited Precocious Puberty
Long penis, Abnormal hair morphology, Oligospermia, Macroorchidism, Tall stature, Precocious puberty ORPHA:3000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Macroorchidism, Cardiomegaly, Macrotia OMIM:300886
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Beckwith-Wiedemann Syndrome
Facial hemangioma, Cryptorchidism, Pseudohypoparathyroidism, Neoplasm, Hypercalciuria, Vesicouret... ORPHA:116
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Small nail, Poroma, Onycholysis, Sparse hair, Ridged nail, Hypodontia, Apoc... OMIM:224750
Down Syndrome
Acute megakaryocytic leukemia, Narrow palate, Narrow mouth, Open mouth, Downturned corners of mou... ORPHA:870
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth malposition, Sparse hair, Abnormality of dental morphology, Tooth age... ORPHA:2722
Costello Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Narrow palate, Mitral valve prolapse, Depresse... ORPHA:3071
Congenital Generalized Lipodystrophy
Low anterior hairline, Cirrhosis, Macroglossia, Hyperinsulinemia, Hepatic steatosis, Skeletal mus... ORPHA:528
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Failure to thrive OMIM:617156
Coffin-Siris Syndrome 3
Macroglossia, Sparse hair, Abnormal heart morphology, Hirsutism, Long eyelashes, Wide mouth, Spar... OMIM:614608
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Denys-Drash Syndrome
Ambiguous genitalia, male, Focal segmental glomerulosclerosis, Nephropathy, Gonadal tissue inappr... OMIM:194080
Paraneoplastic Pemphigus
Oral ulcer, B-cell lymphoma, Sarcoma, Oral mucosal blisters, Thymoma ORPHA:63455
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Lujan-Fryns Syndrome
Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Disproportionate ... ORPHA:776
Clark-Baraitser syndrome
Macroorchidism, Tall stature, Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerated... OMIM:300602
Punctate Palmoplantar Keratoderma Type 1
Abnormality of the nail, Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional c... ORPHA:79501
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Wide mouth, Nephropathy, Cholestasis, Hepatic fibrosis, Hepatomeg... OMIM:266920
Familial Adenomatous Polyposis 1
Carious teeth, Adrenocortical adenoma, Adenomatous colonic polyposis, Adrenocortical carcinoma, F... OMIM:175100
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Hematuria, Neoplasm of the liver, Sarcoma ORPHA:69077
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Abnormal fingernail morphology, Malabsor... ORPHA:2930
Oliver-Mcfarlane Syndrome
Cryptorchidism, Sparse hair, Long eyelashes, Delayed puberty, Distal amyotrophy, Alopecia, Hypopl... OMIM:275400
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Alopecia, Woolly scalp hair, Decreased testicular size, Woolly ha... OMIM:601217
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Macroglossia, Bulbous nose, Abnormality of the pinna, Wide mouth, Hypospadias, De... OMIM:300354
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Macroorchidism, Spar... ORPHA:139474
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abnormal heart morphology, Hypothyroidis... ORPHA:85445
Alpha-Mannosidosis
Open bite, Macroglossia, Narrow palate, Macrotia, Recurrent respiratory infections, Hepatomegaly,... ORPHA:61
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Macroglossia, Open mouth, Congenital muscular dystrophy, Muscular dystrophy, Flex... OMIM:613156
Atkin-Flaitz Syndrome
Macroorchidism, Tall stature, Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerated... OMIM:300431
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an... ORPHA:90790
Megalencephaly
Atrial septal defect, Long penis, Macroorchidism, Wide nasal bridge, Truncal obesity ORPHA:2477
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Macrotia, Overfolded helix, Everted lower lip vermilion, Macroorchidism, Abnormal a... ORPHA:324410
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adenocarcinoma of the colon, Elevated hepatic transaminase, Ovarian neoplas... ORPHA:100079
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Xp22.13P22.2 Duplication Syndrome
Sparse hair, Broad nasal tip, Recurrent upper respiratory tract infections, High anterior hairlin... ORPHA:284180
Coffin-Siris Syndrome 4
Macroglossia, Abnormal heart morphology, Hirsutism, Long eyelashes, Wide mouth, Sparse scalp hair... OMIM:614609
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Hepatomegaly, My... ORPHA:254864
Cowden Syndrome
Adenoma sebaceum, Neoplasm, Colorectal polyposis, Conjunctival hamartoma, Breast carcinoma, High ... ORPHA:201
Liposarcoma
Abnormality of the kidney, Sarcoma ORPHA:69078
Porphyria Cutanea Tarda
Cirrhosis, Onycholysis, Hepatocellular carcinoma, Facial hypertrichosis, Alopecia OMIM:176100
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Short nose, Open mouth, Dental crowding, Macroorchidism, Synophrys, Tented uppe... OMIM:300143
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Generalized hirsutism, Neoplasm of the skin ORPHA:626
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Trisomy 20P
Cryptorchidism, Abnormality of the antihelix, Thin vermilion border, Downturned corners of mouth,... ORPHA:261318
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Triploidy
Cryptorchidism, Ambiguous genitalia, Macroglossia, Narrow mouth, Low-set, posteriorly rotated ear... ORPHA:3376
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Ambiguous genitalia, Ovotestis, Small nail, Carcinoma, Clitoral hypertrophy,... OMIM:610644
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating re... ORPHA:231632
Down Syndrome
Acute megakaryocytic leukemia, Macroglossia, Conductive hearing impairment, Hypothyroidism, Compl... OMIM:190685
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Drooling, Macrotia, Excessive salivation, Macroorchidism, Abnormality of the de... OMIM:300055
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Erythrokeratodermia Variabilis
Abnormality of the nail, Abnormal hair morphology, Abnormal testis morphology, Hearing impairment... ORPHA:317
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth, Ridged nail, Breast carcinoma, Alopecia OMIM:614564
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Macroglossia, Abnormal heart morphology,... ORPHA:99886
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Hypothy... OMIM:610755
X-Linked Intellectual Disability, Shashi Type
Bulbous nose, Macrotia, Everted lower lip vermilion, Macroorchidism, Obesity ORPHA:85286
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Mental Retardation, X-Linked 2
High palate, Macroorchidism OMIM:300428
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Autosomal Recessive Spastic Paraplegia Type 18
Bilateral wrist flexion contracture, Macroglossia, Short philtrum, Restricted neck movement due t... ORPHA:209951
Zimmermann-Laband Syndrome 2
Macroglossia, Underdeveloped nasal alae, Widow's peak, Deep philtrum, Long eyelashes, Synophrys, ... OMIM:616455
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Oculoskeletodental Syndrome
Cryptorchidism, Low anterior hairline, Oligodontia, Macroglossia, Mucopolysacchariduria, Hypothyr... OMIM:618440
Monosomy 22
Long philtrum, Thin vermilion border, Aplasia of the thymus, Sparse hair, Open mouth, Low-set, po... ORPHA:96123
Rabson-Mendenhall Syndrome
Premature graying of hair, Dental crowding, Hirsutism, Hypertrichosis, Clitoral hypertrophy, High... ORPHA:769
Atypical Werner Syndrome
Thin vermilion border, Ovarian neoplasm, Premature graying of hair, Neoplasm of the breast, Delay... ORPHA:79474
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Hirsutism, Coarse hair, Low posterior hairline, Wide nose, Low ... OMIM:617303
Kleefstra Syndrome 1
Cryptorchidism, Abnormal renal morphology, Macroglossia, Anteverted nares, Conotruncal defect, Ev... OMIM:610253
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Hypertension OMIM:617021
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Elevated hepatic transaminase, Pleural effusion, Hepatocellular carcinoma... OMIM:235200
Familial Adenomatous Polyposis
Abnormal cementum morphology, Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, N... ORPHA:733
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Bulbous nose, Overfolded helix, Macrovesicular hepatic steatosis, Cardiomegaly, Hi... OMIM:608836
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bulbous nose, Open mouth, Downturned corners of mouth, Camptodactyly, Patent fora... ORPHA:369891
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Trisomy 17P
Narrow mouth, Broad eyebrow, Oral cleft, Skeletal muscle atrophy, High palate, Low posterior hair... ORPHA:261290
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Hydroureter, Neoplasm, Abnormality of the helix, Congenital diaphragmatic hernia,... ORPHA:373
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Biliary cirrho... OMIM:208540
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Classic Mycosis Fungoides
Abnormality of the nail, Lymphoma, Hepatomegaly, Alopecia, Splenomegaly, Cutaneous T-cell lymphom... ORPHA:2584
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Kleefstra Syndrome
Cryptorchidism, Downturned corners of mouth, Vesicoureteral reflux, Pulmonary artery stenosis, Ex... ORPHA:261494
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Macroglossia, Bulbous nose, Open mouth, Macrotia, Everted lower lip vermilion, Wi... OMIM:616789
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure, Edema, Dilated card... OMIM:605676
Crandall Syndrome
Abnormal testis morphology, Sensorineural hearing impairment, Brittle hair, Alopecia, Aplasia/Hyp... ORPHA:202
Basal Cell Nevus Syndrome
Basal cell carcinoma, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Odontogenic keratocy... OMIM:109400
Diaphanospondylodysostosis
Nephroblastomatosis, Short nose, Cystic renal dysplasia, Enlarged kidney, Nephrogenic rest, Trach... OMIM:608022
Palmoplantar Carcinoma, Multiple Self-Healing
Long philtrum, Squamous cell carcinoma, Nail dystrophy, Carcinoma OMIM:615225
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Triangular tongue, Skeletal muscle atrophy, Dilated cardiomyopa... OMIM:616827
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, M... ORPHA:730
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Proteus Syndrome
Carious teeth, Abnormal dental enamel morphology, Ovarian neoplasm, Narrow internal auditory cana... ORPHA:744
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Increased alph... ORPHA:86816
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Fragile X Syndrome
Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism, Macrotia OMIM:300624
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Hirsutism, Insulin-resistant ... ORPHA:90301
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Highly arched eyebrow, Macroglossia, Short nose, Downturned corners of mouth, Abn... ORPHA:96147
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Abnormality of the dentition, Sparse scalp hair, Hear... ORPHA:1008
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... OMIM:616050
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Sensorineural hearing impairment, Abnormality of the helix, Clitoral hypertrophy,... OMIM:214100
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... ORPHA:480536
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Ovarian neoplasm, Conductive hearing impairment, Choana... ORPHA:87
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Carious teeth, Sparse hair, Abnormal fingernail morphology, Abnormalit... ORPHA:659
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Meningioma, Macronodular adrenal hyperplasia, Truncal obesity, Generalized hirsutism, Diabetes me... ORPHA:189427
Cheilitis Glandularis
Everted lower lip vermilion, Squamous cell carcinoma, Cheilitis, Carcinoma OMIM:118330
Pituitary Hormone Deficiency, Combined, 1
Macroglossia, Short nose, Hypothyroidism, Prolonged neonatal jaundice, Jaundice, Anteverted nares... OMIM:613038
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Flexion contracture, Central adrenal insufficiency, Hypodontia, Adrenal insufficie... OMIM:612079
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Familial Thyroid Dyshormonogenesis
Macroglossia, Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevat... ORPHA:95716
Peutz-Jeghers Syndrome
Nasal polyposis, Neoplasm, Breast carcinoma, Multiple renal cysts, Abnormality of the ureter, Rec... ORPHA:2869
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Syn... OMIM:618729
Monosomy 9Q22.3
Basal cell carcinoma, Medulloblastoma, Cardiac fibroma, Long philtrum, Narrow mouth, Odontogenic ... ORPHA:77301
Crouzon Syndrome
Abnormal nasopharynx morphology, Dental crowding, Conductive hearing impairment, Atresia of the e... OMIM:123500
H Syndrome
Abnormal eyebrow morphology, Azoospermia, Recurrent pharyngitis, Bronchiectasis, Enlarged kidney,... ORPHA:168569
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Spinocerebellar Ataxia, Autosomal Recessive 20
Long philtrum, Macroglossia, Delayed eruption of teeth, Dental crowding, Camptodactyly, Thick ver... OMIM:616354
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Hypothyroidism, Skeletal muscle hypertrophy, Jaundice, Myopathy ORPHA:2349
Fragile X Syndrome
Mitral valve prolapse, Protruding ear, Macroorchidism, Sinusitis ORPHA:908
Cheilitis Glandularis
Neoplasm, Thick lower lip vermilion, Abnormal salivary gland morphology, Squamous cell carcinoma ORPHA:1221
Idiopathic Congenital Hypothyroidism
Macroglossia, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone co... ORPHA:95717
Congenital Hypothyroidism
Macroglossia, Goiter, Abnormal hair morphology, Anterior hypopituitarism, Hypothyroidism, Abnorma... ORPHA:442
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Overgrowth, Nephroblastoma, Multip... ORPHA:276280
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Small nail, Ventricular septal defect, Obesity, Protruding tongue, ... OMIM:612938
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Renal malrotation, Bifid ureter, Macrotia, Ventricular septal defect, Thick vermili... OMIM:617107
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Candidiasis, Familial, 1
Premature loss of teeth, Alopecia, Abnormality of the endocrine system OMIM:114580
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Edema, Skeletal mu... OMIM:607598
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Adrenal hypoplasia, Enlarged kidney, Sex rever... OMIM:612651
Grange Syndrome
Hypertension, Patent ductus arteriosus, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Trichohepatoneurodevelopmental Syndrome
Macroglossia, Bulbous nose, Downturned corners of mouth, Dental crowding, Curly hair, Coarse hair... OMIM:618268
Schinzel-Giedion Syndrome
Facial hemangioma, Camptodactyly, Central hypothyroidism, Abnormality of the stapes, Abnormality ... ORPHA:798
Desmoid Tumor
Fibroma, Desmoid tumors, Hydronephrosis, Intestinal polyposis, Abnormality of the upper urinary t... ORPHA:873
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, Second de... OMIM:618782
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Mulibrey Nanism
Enamel hypoplasia, Myocardial fibrosis, Dental crowding, Hypoplastic frontal sinuses, Hypodontia,... OMIM:253250
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Failure to thrive OMIM:602579
Perlman Syndrome
Cryptorchidism, Nephroblastomatosis, Open mouth, Nephrogenic rest, Long upper lip, Visceromegaly,... OMIM:267000
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphoproliferative disorder, Recurrent upper respiratory tract infections, Elevated circulating ... OMIM:615559
Renpenning Syndrome
Short philtrum, Narrow mouth, Macrotia, Thin eyebrow, Abnormal hair laboratory examination, Cleft... ORPHA:3242
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... ORPHA:523
Steinert Myotonic Dystrophy
Male hypogonadism, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Ovarian carcin... ORPHA:273
Schinzel-Giedion Midface Retraction Syndrome
Facial hemangioma, Hydroureter, Scrotal hypoplasia, Bicornuate uterus, Hypertrichosis, Micropenis... OMIM:269150
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ho... ORPHA:226313
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Tuberous Sclerosis 1
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Dental enamel pits, Opt... OMIM:191100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypopla... ORPHA:1209
Dermatomyositis
Gastrointestinal stroma tumor, Abnormality of the nail, Pericarditis, Abnormal hair quantity, Pul... ORPHA:221
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Short philtrum, Macroglossia, Wide mouth, Synophrys, Thick eyebrow, Knee flexion contracture, Hig... ORPHA:280384
Cerebellar Ataxia And Ectodermal Dysplasia
Agenesis of permanent teeth, Sparse hair, Alopecia OMIM:212835
Tyrosinemia, Type I
Paralytic ileus, Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcin... OMIM:276700
Familial Melanoma
Abnormal hair morphology, Neoplasm of the breast, Neoplasm of the stomach, Neoplasm of the pancre... ORPHA:618
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Multiple Endocrine Neoplasia Type 4
Adrenocortical adenoma, Elevated circulating growth hormone concentration, Hyperinsulinemic hypog... ORPHA:276152
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow, Cleft palate OMIM:600331
Tuberous Sclerosis 2
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Pulmonary lymphangiomyo... OMIM:613254
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Sparse eyebrow, Hypoplasia of teeth, Premature graying of hair, Overfolded helix,... OMIM:268400
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Progeria-Short Stature-Pigmented Nevi Syndrome
Progressive sensorineural hearing impairment, Neoplasm, Delayed puberty, Neoplasm of the pancreas... ORPHA:2959
Acrocephalopolydactylous Dysplasia
Short nose, Enlarged kidney, Cystic renal dysplasia, Hypoplastic colon, Polysplenia, Abnormality ... OMIM:200995
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Increased T3/T4 ratio, Impaired sensitivity to thyroid h... OMIM:614450
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Enlarged kidney, Hamartoma of tongue, Intestinal malrotation, Renal dysplasi... OMIM:613091
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Macroglossia, Renal agenesis, Absent frontal sinuses, Anteverted nares, Ventricul... OMIM:301040
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Cryptorchidism, Long philtrum, Macroglossia, Anteverted nares, Dental crowding, High palate, Wide... OMIM:141750
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Multiple renal cysts, Fibroma, Uterine leiomyoma, ... ORPHA:220460
Permanent Congenital Hypothyroidism
Macroglossia, Goiter, Hypothyroidism, Jaundice, Thyroid dysgenesis ORPHA:226292
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Submucous cleft lip, Intestinal malrotation, Congenital diaphragmatic hernia, Car... OMIM:312870
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Neoplasm of the rectum, Es... ORPHA:44890
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Thickened helices, Highly arched eyebrow, Arthrogryposis multiplex congenita, Mac... OMIM:618143
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Long philtrum, Macroglossia, Atrial septal defect, Dental crowding, Camptodactyly, Deep philtrum,... ORPHA:397709
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Proximal amyotrophy, ... OMIM:606612
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Pheochromocytoma, Jaundice, Carcinoid tumor, Neurofibromas OMIM:162240
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Sézary Syndrome
Abnormal pleura morphology, Lymphoma, Hepatomegaly, Alopecia, Splenomegaly, Skeletal muscle atrop... ORPHA:3162
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Osteocho... ORPHA:1359
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Carious teeth, Premature graying of hair, Pterygium of nails, Ridged nail, Hodgki... OMIM:305000
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Partington Syndrome
Macroorchidism ORPHA:94083
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Thyroid Hemiagenesis
Jaundice, Macroglossia, Thyroid agenesis ORPHA:95719
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Pedal edema, Patent ductus arteriosus, Sinus bradycardia, Ventricular septal defect OMIM:126320
Deafness-Craniofacial Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Short lingual frenulum, Hearing impairment, Alopecia OMIM:125230
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Hypothyroidism, Macroglossia, Rhabdomyolysis OMIM:251900
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... ORPHA:1183
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Cirrhosis, Myelodysplasia, Nail pits, Sparse hair, Premature graying of hair, C... OMIM:127550
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Atrial septal defect, Abnormality of the anterior pituitary, Renal hypoplasia, Ven... ORPHA:75389
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Long philtrum, Sparse hair, Hypothyroidism, Posteriorly rotated ears, Thin upper lip vermilion, S... OMIM:617763
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Kaposiform Lymphangiomatosis
Multiple renal cysts, Abnormal lung morphology, Enlarged kidney, Pancreatic cysts, Pericardial ef... ORPHA:464329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Sk... OMIM:608840
Exostoses, Multiple, Type I
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133700
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Glycogen Storage Disease Ia
Decreased muscle mass, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulos... OMIM:232200
Johnson Neuroectodermal Syndrome
Carious teeth, Sparse hair, Absent eyelashes, Ventricular septal defect, Conductive hearing impai... OMIM:147770
Anauxetic Dysplasia 2
Macroglossia, Small nail, Sparse hair, Flexion contracture, Hypodontia, Nail dysplasia OMIM:617396
Terminal Osseous Dysplasia
Camptodactyly of finger, Camptodactyly of toe, Fibroma, Multiple joint contractures, Cleft palate... OMIM:300244
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Facial pals... OMIM:613155
Pontocerebellar Hypoplasia, Type 9
Short upper lip, Macroglossia, Facial hypotonia, Abnormality of the pinna OMIM:615809
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Exostoses, Multiple, Type Ii
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133701
Alopecia-Intellectual Disability Syndrome
Macrotia, Hypergonadotropic hypogonadism, Flexion contracture, Sparse scalp hair, Hearing impairm... ORPHA:2850
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Al Amyloidosis
Abnormality of the kidney, Monoclonal light chain cardiac amyloidosis, Macroglossia, Albuminuria,... ORPHA:85443
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Dyskeratosis Congenita
Carious teeth, Premature graying of hair, Neoplasm, Neoplasm of the pancreas, Aplastic/hypoplasti... ORPHA:1775
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Soft tissue neoplasm, Genital neoplasm, Abnormality of the peritoneum, Pelvic ma... ORPHA:2126
Gm1 Gangliosidosis
Long philtrum, Macroglossia, Camptodactyly of finger, Abnormality of the scrotum, Narrow mouth, M... ORPHA:354
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Pericarditis, Pleuritis, Int... ORPHA:449395
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Oral ulcer, H... OMIM:232220
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Male hypogonadism, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Hamartoma, Hurthle cell thyroid adenoma, Papillary re... OMIM:145001
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Macroglossia, Abnormal heart valve morphology, Dermatan sulfate excret... OMIM:309900
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Renal malrotation, Bifid ureter, Enlarged kidney, Macrotia, Ventricular septal defe... ORPHA:500095
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Left bundle branch block, Atrioventricula... OMIM:115197
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Cryptorchidism, Hydroureter, Bilateral renal agenesis, Attached earlobe, Sensorineural hearing im... OMIM:619194
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive OMIM:608104
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Mastocytosis
Chronic leukemia, Hepatomegaly, Sarcoma, Splenomegaly, Acute leukemia ORPHA:98292
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Prolonged QT interval, Patent ... OMIM:601005
Cushing Syndrome Due To Ectopic Acth Secretion
Generalized hirsutism, Pheochromocytoma, Neuroendocrine neoplasm, Truncal obesity, Thyroid carcin... ORPHA:99889
Ichthyosis, Hystrix-Like, With Deafness
Absent eyelashes, Scarring alopecia of scalp, Sensorineural hearing impairment, Sparse and thin e... OMIM:602540
Cowden syndrome 3
Neoplasm of the thyroid gland, Uterine leiomyoma, Renal cell carcinoma OMIM:615106
Oncogenic Osteomalacia
Neoplasm of head and neck, Renal phosphate wasting, Neurofibromas, Hyperphosphaturia, Carcinoma, ... ORPHA:352540
Leprechaunism
Central hypothyroidism, Hypercalciuria, Hypertrichosis, Skeletal muscle atrophy, Clitoral hypertr... ORPHA:508
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Red hair, Pheochromocytoma, Hirsutism, Cardiac... OMIM:160980
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Neurofibromatosis Type 1
Cryptorchidism, Plexiform neurofibroma, Neoplasm, Delayed puberty, Precocious puberty, Lisch nodu... ORPHA:636
Eosinophilic Gastroenteritis
Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Pulmonary fibrosis, Hepatomegaly, Nail dysplasia, Delayed puberty, Alopecia, Skeletal muscle atrophy OMIM:615704
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Macroglossia, Ventricular septal defect, High palate, Hepatomegaly, Neonatal insu... ORPHA:96191
Papillon-Lefèvre Syndrome
Generalized hirsutism, Severe periodontitis, Abnormality of the nail, Abnormal fingernail morphol... ORPHA:678
Nicolaides-Baraitser Syndrome
Cryptorchidism, Highly arched eyebrow, Thin vermilion border, Long philtrum, Sparse hair, Abnorma... ORPHA:3051
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Fucosidosis
Macroglossia, Absent/hypoplastic paranasal sinuses, Flexion contracture, Oligosacchariduria, Hepa... OMIM:230000
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Sparse hair, Abnormality of dental morphol... ORPHA:2251
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Bresek Syndrome
Cryptorchidism, Hypoplasia of the bladder, Renal hypoplasia, Aganglionic megacolon, Renal dysplas... ORPHA:85284
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Decreased circulating parathyroid hormone level, Tympanoscl... OMIM:240300
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia OMIM:188150
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Von Hippel-Lindau Syndrome
Multiple renal cysts, Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochro... OMIM:193300
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Costello Syndrome
Renal insufficiency, Mitral valve prolapse, High palate, Bladder carcinoma, Bronchomalacia, Fragi... OMIM:218040
Milroy Disease
Hydrocele testis, Angiosarcoma, Neoplasm of the skin, Toenail dysplasia ORPHA:79452
Kid Syndrome
Cryptorchidism, Carious teeth, Neoplasm, Sensorineural hearing impairment, Abnormality of the ton... ORPHA:477
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Downturned corners of mouth, Vesicoureteral reflux, Sensorineural hearing impairment, Patent fora... ORPHA:444077
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Oligodontia, Open mouth, Downturned corners of mouth, Underdeveloped nasal alae, ... ORPHA:453499
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Thyroiditis, Delayed puberty, Gingivitis, Enlarged kidney, Oral ulcer, Polycystic ... ORPHA:79259
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Thyroid Dyshormonogenesis 1
Hypothyroidism, Macroglossia, Goiter OMIM:274400
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Tricuspid regurgitation, Prolonged QT interval, Cardiomegaly, Mitral regurgitation OMIM:618052
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Lymphedema, Atrial flutter, Pat... OMIM:601927
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Neoplasm of the skeletal system, Primary hyperparathyroidi... ORPHA:1332
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Aromatase Deficiency
Generalized hirsutism, Cryptorchidism, Hypergonadotropic hypogonadism, Hepatic steatosis, Female ... ORPHA:91
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Congenital alopecia totalis, Fingernail dysplasia ORPHA:1010
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Anal atresia, Hydronephrosis, Atrioventricular canal defect, T... OMIM:314390
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased cir... ORPHA:90674
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Ventricular septal defect, Hydrops fetalis, Abnormal tricuspid valve morphology ORPHA:3405
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Cushing Disease
Premature ovarian insufficiency, Truncal obesity, Diabetes mellitus, Generalized hirsutism, Myopa... ORPHA:96253
Noonan Syndrome 8
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Pleural effusion, Patent ductus ... OMIM:615355
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Narrow mouth, Spontaneous esophageal perforation, Flexion contracture, Abnorma... OMIM:226600
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Scrotal hypoplasia, Abnormality of dental morph... ORPHA:3253
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... OMIM:150800
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Nephrocalcinosis, Peptic ulcer, Fibroma, Uterine leiomyoma, Hypercalciuria, ... ORPHA:99880
Athyreosis
Thyroid agenesis, Macroglossia, Hypothyroidism ORPHA:95713
Mental Retardation, Autosomal Recessive 30
Macroglossia OMIM:614342
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Ambiguous genitalia, Macroglossia, Everted lower lip vermilion, Flexion contractu... ORPHA:847
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Lobulated tongue, Al... OMIM:311200
Mucolipidosis Ii Alpha/Beta
Long philtrum, Macroglossia, Diastasis recti, Recurrent pneumonia, Recurrent bronchitis, Mucopoly... OMIM:252500
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma, Skeletal muscle atrophy, Myo... OMIM:112250
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormality of the antihelix, Midfron... ORPHA:95699
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect