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Gene: Gfra1 MGI:1100842

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
glial cell line derived neurotrophic factor family receptor alpha 1
Synonyms:
GFR alpha-1,  GDNFR-alpha

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 Gfra1 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 Gfra1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Renal Agenesis, Bilateral
Renal agenesis, Tracheoesophageal fistula, Cleft palate, Abnormal intestine morphology ORPHA:1848
Renal Hypodysplasia/Aplasia 4
Bilateral renal agenesis OMIM:619887

The table below shows human diseases predicted to be associated to Gfra1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Distal amyotro... OMIM:607641
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Hypopigmented skin patches ORPHA:3239
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... OMIM:611376
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Thin skin, Hypohidrosis ORPHA:1658
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Hyperhidrosis ORPHA:2400
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon, Unilateral renal agenesis OMIM:235740
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Nephrolithiasis ORPHA:91412
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
X-Linked Ehlers-Danlos Syndrome
Gastroesophageal reflux, Thin skin ORPHA:75497
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... OMIM:253310
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy, Urinary... OMIM:602099
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles OMIM:614373
Dermoodontodysplasia
Thin skin OMIM:125640
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... OMIM:611890
Abcd Syndrome
Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan... OMIM:600501
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Urinary incontinence OMIM:607225
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Thin skin, Striae distensae OMIM:225310
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension, Urinary incontinence, Neurogenic... OMIM:263570
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... OMIM:613954
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... OMIM:606353
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:743
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia OMIM:274265
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin ORPHA:745
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Acrogeria
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Dermoodontodysplasia
Hypohidrosis, Thin skin, Melanocytic nevus ORPHA:1660
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Erythematous plaque, Thin skin, Dermal atrophy, Milia ORPHA:158673
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Localized s... ORPHA:3386
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... ORPHA:52430
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Dysphagia OMIM:615750
Familial Cervical Artery Dissection
Striae distensae, Facial palsy, Thin skin ORPHA:36382
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Periarticular subcutaneous nodules, Achalasia ORPHA:436174
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Silver-Russell Syndrome 2
Thin skin, Hyperhidrosis OMIM:618905
Scleromyxedema
Abnormality of the gastrointestinal tract, Hypoperistalsis, Skin-colored papule, Gastroesophageal... ORPHA:167635
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux, Thin skin ORPHA:98892
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Thin skin, Hypohidrosis ORPHA:1810
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic megacolon... OMIM:243180
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Immunodeficiency 70
Celiac disease, Achalasia, Colitis OMIM:618969
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of peripheral nerv... ORPHA:65684
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Skin dimple, Thin skin, Feeding difficulties ORPHA:261304
Fetal Encasement Syndrome
Thin skin OMIM:613630
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Renal hypoplasia, Cleft palate, Neonatal death, Ve... ORPHA:85284
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:105550
Triple A Syndrome
Achalasia, Optic atrophy ORPHA:869
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Enterocolitis OMIM:142623
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:614808
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... ORPHA:1018
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy OMIM:215470
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:617892
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Optic atrophy, Hydronephrosis, Abnormal autonomic nervous system physiology OMIM:598500
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Thin skin OMIM:225320
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Hypoplasia of penis, Aganglionic megacolon, Malabsorption ORPHA:452
Congenital Heart Defects And Ectodermal Dysplasia
Thin skin, Feeding difficulties OMIM:617364
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Intellectual Disability-Alacrima-Achalasia Syndrome
Preauricular skin tag, Achalasia, Dysphagia ORPHA:289483
Tetrasomy 18P
Achalasia ORPHA:3307
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, S... ORPHA:2028
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:105400
Dystonia-Deafness Syndrome 1
Achalasia, Pseudobulbar paralysis, Dysphagia OMIM:607371
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule ORPHA:89843
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia, Decreased sensory nerve conduction velocity, Optic atrophy OMIM:609033
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Generalized amyotrophy, Abnormal upper motor neuron morph... ORPHA:275872
Pseudoprogeria Syndrome
Thin skin ORPHA:2985
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness ORPHA:2590
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Feeding difficulties, Hyperhidrosis, Chronic constipation, Abnormal autono... OMIM:209880
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Thin skin ORPHA:230839
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin ORPHA:157965
Dermotrichic Syndrome
Aminoaciduria, Aganglionic megacolon ORPHA:99688
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Hydroureter, Hydronephrosis, Death in infancy OMIM:618240
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Bowel incontinen... ORPHA:93930
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormal lower motor ... OMIM:205100
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Anorectal anomaly, Abnormality of the ureter, Tracheoesophageal fistula... ORPHA:1834
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... ORPHA:2241
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... ORPHA:79100
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Cigarette-paper scars, Thin skin, Webbed neck OMIM:612350
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Facial palsy, Congenital localized abs... ORPHA:1114
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin ORPHA:1899
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Aganglionic megacolon, Chronic kidney disease, Proteinuria ORPHA:261222
Achalasia-Addisonianism-Alacrima Syndrome
Achalasia, Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:231550
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Atrophic scars, Thin skin ORPHA:75496
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Dysphagia ORPHA:79107
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Ectopic kidney, Neonatal death, Cystic renal dysplasia OMIM:613730
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Urinary incontinence OMIM:221770
Visceral Myopathy 1
Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon, Megacystis, Urinary retention, ... OMIM:155310
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Aganglionic megacolon OMIM:304100
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Hypohidrosis, Dysphagia, Acha... OMIM:615510
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Hypospadias, Cleft palate ORPHA:66629
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroesophageal reflux... OMIM:619482
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Optic disc coloboma, Secretory diarrhea, Cleft pala... OMIM:270420
Superficial Epidermolytic Ichthyosis
Thin skin ORPHA:455
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
Focal Facial Dermal Dysplasia Type I
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita ORPHA:79133
Familial Partial Lipodystrophy, Dunnigan Type
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin ORPHA:2348
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency OMIM:615952
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Achalasia, Gastroesophageal reflux, Feeding difficulties OMIM:600987
Igg4-Related Ophthalmic Disease
Lymphadenopathy, Abnormal fifth cranial nerve morphology, Abnormality of the kidney, Abnormality ... ORPHA:449563
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Duodenal stenosis, Abno... ORPHA:2547
Cutis Laxa, Autosomal Recessive, Type Iiia
Episodic vomiting, Thin skin OMIM:219150
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Neonat... OMIM:613390
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Bowel incontinence, Ectopic kidney, Ab... ORPHA:3027
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Distal amyotrophy, Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608627
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Intestinal malrotation OMIM:249210
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Milia, Aplasia cutis congenita ORPHA:79402
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Dermal atrophy ORPHA:3406
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis OMIM:617219
Pparg-Related Familial Partial Lipodystrophy
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin ORPHA:79083
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Abnormality of the ureter ORPHA:1035
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Familial Visceral Myopathy
Hydroureter, Aganglionic megacolon, Megacystis, Cleft palate, Vesicoureteral reflux ORPHA:2604
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Hepa... OMIM:180860
Waardenburg-Shah Syndrome
Intestinal obstruction, Aganglionic megacolon, Abnormal intestine morphology ORPHA:897
Haddad Syndrome
Death in infancy, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Gastroesop... ORPHA:99803
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology ORPHA:412066
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Atrophic scars, Milia, Congenital localized absence of skin OMIM:226700
19Q13.11 Microdeletion Syndrome
Aplasia cutis congenita, Thin skin, Feeding difficulties ORPHA:217346
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Urinary incontinence, Generalized amyotrophy, Urinary urg... OMIM:601162
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin, Papule ORPHA:742
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Ne... ORPHA:276244
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis OMIM:613834
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Dermal atrophy OMIM:617294
Ehlers-Danlos Syndrome, Periodontal Type, 1
Intestinal perforation, Atrophic scars, Thin skin, Hiatus hernia OMIM:130080
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Fatigable weakness, Dermal atrophy, Skin vesicle, Papule ORPHA:257
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Marshall-Smith Syndrome
Optic atrophy, Thin skin ORPHA:561
Acth-Independent Macronodular Adrenal Hyperplasia
Thin skin, Striae distensae OMIM:219080
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Focal Dermal Hypoplasia
Acute hepatic failure, Macule, Aplasia/Hypoplasia of the skin, Abdominal pain, Skin nodule, Subcu... ORPHA:2092
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Pigmented Nodular Adrenocortical Disease, Primary, 2
Thin skin, Striae distensae OMIM:610475
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Bloody diarrhea, Hamartomato... OMIM:175200
Trisomy 13
High, narrow palate, Optic atrophy, Abnormality of the ureter, Cleft palate, Multiple renal cysts... ORPHA:3378
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Thin skin, Esophagitis, Hiatus hernia ORPHA:1901
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Aplasia cutis congenita, Congenital pyloric atresia OMIM:612138
Acrofacial Dysostosis Syndrome Of Rodriguez
Thin skin OMIM:201170
Mirage Syndrome
Achalasia, Chronic diarrhea, Gastroesophageal reflux, Esophageal stricture OMIM:617053
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Atypical scarring of skin ORPHA:1366
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Aganglionic megacolon, Cleft palate, Vesicoureteral reflux, Anal atresia OMIM:614749
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Orofaciodigital Syndrome V
Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Horseshoe kidney, Cleft palate, ... OMIM:174300
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure... ORPHA:3339
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Multinucleated neur... OMIM:236500
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Glandular hypospadias, C... ORPHA:2473
Fryns Syndrome
Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Intestinal malrotation, Cleft p... ORPHA:2059
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Feeding difficulties in infancy, Thin skin, Hypohidrosis ORPHA:1812
Osteogenesis Imperfecta, Type Ii
Thin skin OMIM:166210
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Intestinal duplication, Renal hypoplasia/aplasia ORPHA:1756
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Gastroesophageal reflux, Thin skin ORPHA:449291
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... ORPHA:2973
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon, Elevated urinary norepinephrine level, Elevated urinary dopamine level, El... OMIM:171400
Orofaciodigital Syndrome Type 5
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Crossed fused renal ectopia, Bifid... ORPHA:2919
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cafe-au-lait spot, Thin skin, Feeding difficulties OMIM:617804
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Polycystic kidney dysplasia, Vesicovagi... OMIM:236700
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Thin skin OMIM:607823
Stuve-Wiedemann Syndrome 1
Feeding difficulties, Hyperhidrosis, Abnormal autonomic nervous system physiology, Thin skin, Dys... OMIM:601559
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin ORPHA:1643
Prune Belly Syndrome
Hydroureter, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Anal atresia OMIM:100100
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Abnormal intestine morphology, Dermal atrophy, Papule ORPHA:525
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Chronic diarrhea, Hematochezia, Inflammation of the large intestine, Thin skin OMIM:615895
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Pigmented Nodular Adrenocortical Disease, Primary, 1
Thin skin, Striae distensae OMIM:610489
Congenital Heart Defects And Skeletal Malformations Syndrome
Chronic constipation, Intestinal malrotation, Thin skin OMIM:617602
L1 Syndrome
Aganglionic megacolon ORPHA:275543
Piebald Trait
Aganglionic megacolon OMIM:172800
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Gastrointestinal inflammation, Atrophic scars, Aplasia cutis congenita, Milia ORPHA:79411
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency, Aganglionic megacolon, Cleft palate ORPHA:220497
Short Syndrome
Thin skin OMIM:269880
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Intestinal malrotation, Feeding difficulties in infancy, Constipation, Thin sk... OMIM:244450
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Optic nerve hypoplasia, Feeding difficulties in infancy, Feeding difficulties, ... OMIM:617506
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Neurogenic bladder OMIM:615911
Pituitary Adenoma 4, Acth-Secreting
Thin skin, Striae distensae OMIM:219090
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrophic scars, Thin skin ORPHA:230851
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency, Aganglionic megacolon ORPHA:2318
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Hypoplasia of penis, Aganglionic megacolon, Optic atrophy, Macroglossia, Gastro... ORPHA:847
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Thin skin OMIM:614438
Waardenburg Syndrome, Type 3
Aganglionic megacolon OMIM:148820
Fabry Disease
Nausea and vomiting, Anorexia, Malabsorption, Abdominal pain, Subcutaneous nodule, Optic atrophy,... ORPHA:324
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi... ORPHA:93929
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... ORPHA:59315
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Esophageal stenosis, Aplasia cutis congenita of scalp,... OMIM:619817
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Thin skin, Hypohidrosis ORPHA:238468
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Aganglionic megacolon, Elevated urinary norepinephrine leve... ORPHA:653
Premature Aging Syndrome, Penttinen Type
Keloids, Skin nodule, Thin skin, Dermal atrophy OMIM:601812
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Achalasia OMIM:616007
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Gastrointestinal telangiectasia, Optic atrophy, Thin skin OMIM:612199
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Anteriorly placed anus, Hydronephrosis, High palate, Bifid uvula ORPHA:247262
Baller-Gerold Syndrome
Malabsorption, Abnormality of the ureter, Abnormal localization of kidney, Cleft palate, Anterior... ORPHA:1225
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Glass Syndrome
Poor suck, Thin skin OMIM:612313
Mandibuloacral Dysplasia
Thin skin ORPHA:2457
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... OMIM:600057
Duane-Radial Ray Syndrome
Anal stenosis, Aganglionic megacolon, Facial palsy, Renal hypoplasia, Horseshoe kidney, Vesicoure... OMIM:607323
Adult Syndrome
Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Cleft palate, Renal hypoplasia/aplasia ORPHA:1770
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon OMIM:619431
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin ORPHA:280365
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Thin skin OMIM:112250
Recon Progeroid Syndrome
Thin skin OMIM:620370
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, Abnormal localization of kidne... ORPHA:819
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Xeroderma Pigmentosum
Macule, Hypermelanotic macule, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Thin... ORPHA:910
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Xerostomia, Hypopigmented skin patches, Skin ulcer, Th... ORPHA:2907
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dermal atrophy, Thin skin ORPHA:90154
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Gastroesophageal reflux, Thin skin, Esophagitis ORPHA:3342
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... ORPHA:79480
Vici Syndrome
Death in infancy, Optic atrophy, Ureteral atresia, Renal tubular acidosis, High palate ORPHA:1493
Geroderma Osteodysplastica
Thin skin ORPHA:2078
Adams-Oliver Syndrome 4
Aplasia cutis congenita OMIM:615297
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon ORPHA:52503
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Optic atrophy, Dysphagia, Hydronephrosis OMIM:222300
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis ORPHA:803
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Achalasia, Esophagitis, Feeding difficulties OMIM:615356
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Rapp-Hodgkin Syndrome
Thin skin, Hypohidrosis OMIM:129400
Dextrocardia
Meckel diverticulum, Abnormal renal morphology, Abnormality of the ureter, Intestinal malrotation ORPHA:1666
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Anhidrosis, Hypohidrosis, Constipation, Thin skin, Hypoplastic-absent sebaceous glands OMIM:305100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dermal atrophy, Thin skin ORPHA:90153
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Renal insufficiency, Bladder fistula, Anal stenosis, U... ORPHA:322
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Aplasia/Hypoplasia of the skin, Abdominal pain, Subcutaneous nodule, Pannicu... ORPHA:33577
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Tooth Agenesis, Selective, 4
Palmoplantar hyperhidrosis, Thin skin, Hypohidrosis OMIM:150400
Arterial Tortuosity Syndrome
Thin skin, Hiatus hernia OMIM:208050
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Hyperechog... OMIM:617914
Waardenburg Syndrome Type 1
Aganglionic megacolon, Cleft palate ORPHA:894
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Fryns Syndrome
Ureteral duplication, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Esophageal atre... OMIM:229850
Adult Syndrome
Dermal atrophy, Thin skin OMIM:103285
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Hem... ORPHA:79403
Huriez Syndrome
Aplasia/Hypoplasia of the skin ORPHA:384
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Aganglionic megacolon, Cleft palate, Abnormal rectum morphology OMIM:239300
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atypical scarring of skin, Aplasia cutis congenita, Skin detachment, ... ORPHA:251393
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo... ORPHA:3440
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Peripapillary atrophy, Thin skin ORPHA:536467
Isolated Congenital Alacrima
Achalasia ORPHA:91416
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Abnormality of the urina... ORPHA:158684
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Acro-Renal-Ocular Syndrome
Aganglionic megacolon, Optic disc coloboma, Horseshoe kidney, Bladder diverticulum, Vesicouretera... ORPHA:959
Down Syndrome
Aganglionic megacolon, Protruding tongue, Narrow palate, Macroglossia, Anal atresia ORPHA:870
Spondylodysplastic Ehlers-Danlos Syndrome
Numerous nevi, Optic nerve hypoplasia, Optic disc coloboma, Atrophic scars, Thin skin ORPHA:536471
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Chronic diarrhea, Feeding difficulties, Constipation, Gastroesophageal reflux, Thin... OMIM:615873
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal muscle fi... ORPHA:1320
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Asymmetric, linear skin defects, Aplasia cutis congenita OMIM:300887
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Abnormal optic disc morphology, Hypospadias OMIM:617516
Osteogenesis Imperfecta, Type I
Thin skin OMIM:166200
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Elevated urinary epinephrine lev... OMIM:162300
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
De Barsy Syndrome
Thin skin ORPHA:2962
Congenital Tracheal Stenosis
Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... ORPHA:141127
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Multiple sma... OMIM:263200
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Optic atrophy, Distal amyotrophy OMIM:614298
Oculocerebral Hypopigmentation Syndrome, Cross Type
Thin skin ORPHA:2719
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... ORPHA:79139
Meier-Gorlin Syndrome 1
Feeding difficulties in infancy, Gastroesophageal reflux, Thin skin OMIM:224690
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias, Cleft palate ORPHA:2311
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Optic disc coloboma, Hypopigmented skin patches, Intestinal malro... ORPHA:1553
Piebaldism
Aganglionic megacolon ORPHA:2884
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Aganglionic megacolon, Cleft palate OMIM:614207
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Anal atresia, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Focal Facial Dermal Dysplasia Type Iii
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches ORPHA:1807
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Molluscoid pseudotumors, Thin skin OMIM:225400
Cartilage-Hair Hypoplasia
Esophageal atresia, Anal stenosis, Aganglionic megacolon, Malabsorption OMIM:250250
Hypermobile Ehlers-Danlos Syndrome
Nausea and vomiting, Malabsorption, Decreased nerve conduction velocity, Gastrointestinal dysmoti... ORPHA:285
Cerebral Creatine Deficiency Syndrome 1
Ileus, Aganglionic megacolon OMIM:300352
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Cleft palate ORPHA:220493
Goldberg-Shprintzen Syndrome
Vesicoureteral reflux, Aganglionic megacolon OMIM:609460
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Urinary incontinence, Upper-limb joint co... ORPHA:300605
Joubert Syndrome
Aganglionic megacolon ORPHA:475
Diphallia
Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Rectoperineal... ORPHA:227
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Pitt-Hopkins Syndrome
Aganglionic megacolon, Hiatus hernia, Gastroesophageal reflux, Esophagitis, Micropenis ORPHA:2896
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Cushing Disease
Fatiguable weakness of proximal limb muscles, Skin ulcer, Thin skin, Optic nerve compression, Str... ORPHA:96253
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cleft palate, Micropenis, Hydronephrosis ORPHA:1926
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... OMIM:617666
Czeizel-Losonci Syndrome
Tracheoesophageal fistula, Ureteral agenesis, Abnormality of the urinary system, Congenital megau... ORPHA:2437
Bardet-Biedl Syndrome 1
High, narrow palate, Micropenis, High palate, Aganglionic megacolon OMIM:209900
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Death in infancy, Long-chain dicarboxylic aciduria, Di... OMIM:608836
Ramos-Arroyo Syndrome
Xerostomia, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Smooth tongue ORPHA:1051
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin ORPHA:100
Adams-Oliver Syndrome 3
Aplasia cutis congenita OMIM:614814
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Thin skin, Feeding difficulties ORPHA:536545
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation, Cleft palate, Hy... OMIM:614080
Mandibulofacial Dysostosis With Alopecia
Glossoptosis, Hydroureter, Cleft palate OMIM:616367
Alagille Syndrome
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:52
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Bilateral cleft lip and palate ORPHA:3253
Penile Agenesis
Urethral atresia, male, Hydroureter, Rectal fistula, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Death in infancy, Hypospadias, Aganglionic megacolon, Unilate... OMIM:270400
Meckel Syndrome 12
Ureteral hypoplasia, Bifid uvula, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Diarrhea, Feeding difficulties, Vomiting, Thin skin, Dysphagia OMIM:606721
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Thin skin OMIM:266920
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Nevus, Skin erosion, Esophageal stricture, Malnutrition, Feeding difficultie... ORPHA:89842
Stiff Skin Syndrome
Subcutaneous nodule, Aplasia/Hypoplasia of the skin ORPHA:2833
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Intestinal malrotation, Stage 5 chronic kidney disease, Ureteral atresia, Po... OMIM:208540
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, High palate OMIM:615398
Lenz-Majewski Hyperostotic Dwarfism
Thin skin OMIM:151050
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Pyloric st... ORPHA:818
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, High, narrow palate, Pyloric stenosis, Cleft palate, Narrow pa... ORPHA:96169
Schinzel-Giedion Syndrome
Hypospadias, Aganglionic megacolon, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micro... ORPHA:798
Fanconi Anemia
Renal insufficiency, Hydroureter, Aganglionic megacolon, Hypospadias, Abnormal preputium morpholo... ORPHA:84
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption ORPHA:935
Cartilage-Hair Hypoplasia
Mucopolysacchariduria, Aganglionic megacolon, Malabsorption ORPHA:175
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, Ve... OMIM:258040
Dysosteosclerosis
Aplasia/Hypoplasia of the skin, Optic atrophy, Abnormal cranial nerve morphology ORPHA:1782
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Anorecta... ORPHA:567
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon OMIM:613603
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Microglossia, Renal hy... OMIM:146510
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Ureterocele OMIM:614863
Acrofacial Dysostosis 1, Nager Type
Cleft palate, Velopharyngeal insufficiency, Aganglionic megacolon, Unilateral renal agenesis OMIM:154400
Atypical Werner Syndrome
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Neoplasm of the small intestine ORPHA:79474
Xeroderma Pigmentosum Variant
Dermal atrophy ORPHA:90342
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Optic disc coloboma, Hydronephrosis ORPHA:568
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Loeys-Dietz Syndrome
Atypical scarring of skin, Thin skin, Striae distensae ORPHA:60030
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... ORPHA:289
Ablepharon Macrostomia Syndrome
Thin skin ORPHA:920
Oculocerebrocutaneous Syndrome
Skin tags, Preauricular skin tag, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches ORPHA:1647
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Anorexia, Fatiguable weakness o... ORPHA:99889
Malignant Atrophic Papulosis
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ... ORPHA:679
Noonan Syndrome 9
Hydroureter OMIM:616559
Lyme Disease
Nausea and vomiting, Skin nodule, Dermal atrophy ORPHA:91546
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Xerostomia, Thin skin, Rectovaginal fistula OMIM:129900
Acrorenal-Mandibular Syndrome
Renal agenesis, Abnormality of the ureter, Narrow palate, Aplasia of the bladder, High palate, Po... OMIM:200980
Carpenter Syndrome 1
High palate, Hydroureter, Optic atrophy, Hydronephrosis OMIM:201000
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ileus, Aganglionic megacolon, Microcolon ORPHA:163746
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1787
Occipital Horn Syndrome
Orthostatic hypotension, Ureteral obstruction, Hiatus hernia, Chronic diarrhea, Bladder diverticu... OMIM:304150
Toriello-Carey Syndrome
Anteriorly placed anus, High palate, Aganglionic megacolon, Cleft palate ORPHA:3338
Wiedemann-Rautenstrauch Syndrome
Thin skin, Dysphagia, Feeding difficulties OMIM:264090
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Ureteral agenesis, Bilateral renal agenesis, Stil... OMIM:617667
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, High palate, Death in childhood,... OMIM:300661
Codas Syndrome
Hydroureter ORPHA:1458
Castleman Disease
Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Hematuria... ORPHA:160
Schwartz-Jampel Syndrome
Death in infancy, Abnormality of the ureter, Nephrolithiasis, Cleft palate, Abnormality of the ur... ORPHA:800
Waardenburg Syndrome, Type 4C
Aganglionic megacolon OMIM:613266
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral re... OMIM:308205
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Rectovaginal fistula, Vesicoureteral reflux, Crossed fuse... OMIM:300707
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Intestinal malrotation, Abnormality of the ureter, Cle... OMIM:249000
Restrictive Dermopathy 1
Skin erosion, Thin skin OMIM:275210
Keutel Syndrome
Optic atrophy, Dermal atrophy ORPHA:85202
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Aplasia cutis congenita, Aplasia/Hypoplasia of the skin, Esophageal ... ORPHA:974
Dyskeratosis Congenita
Macule, Esophageal stenosis, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Malabsorption... ORPHA:1775
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Warburg-Cinotti Syndrome
Thin skin OMIM:618175
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Renal agenesis, Absenc... OMIM:604292
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Thin skin, Feeding difficulties ORPHA:3455
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia OMIM:190685
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Conge... ORPHA:280633
Acute Radiation Syndrome
Diarrhea, Vomiting, Dermal atrophy, Skin ulcer ORPHA:454831
Raine Syndrome
Death in infancy, Hydroureter, Protruding tongue, Cleft palate, High palate, Neonatal death, Hydr... OMIM:259775
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel... OMIM:265380
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin ORPHA:1979
Baraitser-Winter Cerebrofrontofacial Syndrome
Optic disc coloboma, Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Ablepharon-Macrostomia Syndrome
Thin skin OMIM:200110
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Xeroderma Pigmentosum, Complementation Group A
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus OMIM:278700
Werner Syndrome
Aplasia/Hypoplasia of the skin, Skin ulcer, Gastrointestinal carcinoma, Neoplasm of the small int... ORPHA:902
Cockayne Syndrome Type 3
Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesi... ORPHA:90324
Vascular Ehlers-Danlos Syndrome
Macule, Subcutaneous nodule, Cigarette-paper scars, Melanocytic nevus, Gastrointestinal infarctio... ORPHA:286
Desmosterolosis
Dermal atrophy, Aplasia/Hypoplasia of the skin, Intestinal malrotation, Feeding difficulties ORPHA:35107
Adams-Oliver Syndrome 5
Cutis marmorata telangiectatica congenita, Aplasia cutis congenita, Esophageal varix OMIM:616028
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Anteriorly placed anus, Gastroesophageal reflux, Rectovaginal fist... OMIM:619426
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Aganglionic megacolon, Hydronephrosis ORPHA:2273
Alg9-Cdg
Hypoplasia of the bladder, Villous atrophy, Ureteral hypoplasia, Diarrhea, Bifid uvula, Gastroeso... ORPHA:79328
Autosomal Recessive Multiple Pterygium Syndrome
Aplasia/Hypoplasia of the skin, Nevus, Abnormal gastrointestinal tract morphology, Webbed neck ORPHA:2990
Subacute Cutaneous Lupus Erythematosus
Annular cutaneous lesion, Dermal atrophy ORPHA:163525
Epidermolysis Bullosa, Lethal Acantholytic
Skin erosion, Aplasia cutis congenita OMIM:609638
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Gastroesophageal reflux, Hydroureter, High palate, Cleft palate OMIM:610759
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, High, narrow palate ORPHA:457212
Frontometaphyseal Dysplasia 1
Hydroureter, High palate, Hydronephrosis, Cleft palate OMIM:305620
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Optic atrop... ORPHA:564
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Death in infancy, Dilatation of the renal pelvis, Horses... OMIM:274000
Mowat-Wilson Syndrome
Aganglionic megacolon, Hypospadias, Pyloric stenosis, Submucous cleft hard palate, Cleft palate OMIM:235730
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal atrophy ORPHA:69735
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Esophageal stricture, Atypical scarring of skin, Inflammation of ... ORPHA:2908
Otopalatodigital Syndrome Type 2
Hypospadias, Ureteral obstruction, Cleft palate, Glossoptosis, Hydronephrosis ORPHA:90652
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Aganglionic megacolon, Phimosis, Congenit... ORPHA:821
Microphthalmia, Syndromic 1
Hydroureter, Aganglionic megacolon, Hypospadias, High, narrow palate, Rectal prolapse, Optic disc... OMIM:309800
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Aganglionic megacolon, Cleft har... ORPHA:2152
Kindler Syndrome
Esophageal stenosis, Spotty hypopigmentation, Dermal atrophy, Dysphagia, Diffuse skin atrophy OMIM:173650
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Optic atrophy, Dermal atrophy OMIM:610651
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Aganglionic megacolon, Cleft har... ORPHA:261537
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Submucous cleft hard palate, Macroglossia, Chronic consti... OMIM:619194
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Feeding difficulties, Atrophic scars, Aplasia cutis co... ORPHA:79396
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Aganglionic megacolon, Cleft har... ORPHA:261552
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatoblastoma, Nephrolithiasis, Hypercalciuria, Cleft palate, Macroglossia... ORPHA:116
Cutis Marmorata Telangiectatica Congenita
Multiple cafe-au-lait spots, Skin erosion, Aplasia/Hypoplasia of the skin, Blue nevus ORPHA:1556
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypoplastic pilosebaceous units OMIM:601345
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Renal hypoplasia, Duodenal atresia OMIM:270100
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Macroglossia, Hepatoblastoma, Micropenis, Hydronephr... OMIM:269150
Chand Syndrome
Hydroureter, Bifid tongue, Cleft palate ORPHA:1401
Proboscis Lateralis
Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma, Ureteral agenesis, Duplic... ORPHA:141099
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Glycosuria, Colon perforation, Microcolon OMIM:600001
Barber-Say Syndrome
Aplasia/Hypoplasia of the skin ORPHA:1231
Xeroderma Pigmentosum, Complementation Group E
Dermal atrophy OMIM:278740
Frontometaphyseal Dysplasia
Ureteral obstruction, Urethral stenosis, Cleft palate, Bifid uvula, Hydronephrosis ORPHA:1826
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Renal hypopl... ORPHA:709
Eec Syndrome
Hypohidrosis, Aplasia/Hypoplasia of the skin, Xerostomia, Nevus ORPHA:1896
Rothmund-Thomson Syndrome
Nasogastric tube feeding in infancy, Diarrhea, Aplasia/Hypoplasia of the skin, Vomiting ORPHA:2909
Focal Dermal Hypoplasia
Ureteral duplication, Intestinal malrotation, Hiatus hernia, Optic atrophy, Horseshoe kidney, Cle... OMIM:305600
Xeroderma Pigmentosum, Variant Type
Dermal atrophy OMIM:278750
Renal Agenesis, Bilateral
Renal agenesis, Tracheoesophageal fistula, Cleft palate, Abnormal intestine morphology ORPHA:1848
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Intestinal malrotation, Duodenal ulcer, Ectopic kidney, Renal hypoplasi... OMIM:135900
Early Infantile Epileptic Encephalopathy
Cleft palate, Micropenis, Renal dysplasia, Ureterocele ORPHA:1934
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Optic atrophy, Dermal atrophy ORPHA:220295
Xeroderma Pigmentosum, Complementation Group C
Dermal atrophy OMIM:278720
Dermatomyositis
Aplasia/Hypoplasia of the skin, Feeding difficulties in infancy, Gastrointestinal stroma tumor, S... ORPHA:221
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Intestinal malrotation, Exocrine pancreatic insufficiency, Intermittent dia... ORPHA:2255
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Submucous cleft h... ORPHA:2636
Poland Syndrome
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel... ORPHA:2911
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Feeding difficulties, ... ORPHA:2556
Skin Creases, Congenital Symmetric Circumferential, 2
Cleft palate, Hypospadias, Ureterocele OMIM:616734
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Malnutrition, Gastrointestinal inflammation, Atrophic scars, Gastroesophageal reflux, Dysphagia, ... ORPHA:79408
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the skin, Facial palsy ORPHA:2658
Branchiooculofacial Syndrome
Preauricular pit, Facial palsy, Malrotation of colon, Pyloric stenosis, Lower lip pit, Dermoid cy... OMIM:113620
Restrictive Dermopathy
Ureteral duplication, Submucous cleft hard palate, Hypospadias, Microcolon ORPHA:1662
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Dyskeratosis Congenita, X-Linked
Esophageal stricture, Optic atrophy, Hyperhidrosis, Dermal atrophy, Anal mucosal leukoplakia OMIM:305000
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Renal hypoplasia, Cleft palate, Anteriorly placed anus, Hydron... OMIM:261540
Renal Hypodysplasia/Aplasia 4
Bilateral renal agenesis OMIM:619887

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 Gfra1

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 Gfra1.

No publications found that use IMPC mice or data for Gfra1.

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
Gfra1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gfra1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gfra1em1(IMPC)Marc Deletion Mice

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