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Familial hypospadias
4 OMIM references -
2 associated genes
189 connected diseases
1 sign/symptom
Disease Type of connection
Complete androgen insensitivity syndrome
Kennedy disease
Partial androgen insensitivity syndrome
X-linked centronuclear myopathy
Autosomal dominant nonsyndromic intellectual deficit
Familial pancreatic carcinoma
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Precursor B-cell acute lymphoblastic leukemia
Papillary or follicular thyroid carcinoma
Cowden syndrome
Proteus syndrome
Hereditary breast and ovarian cancer syndrome
Retinitis pigmentosa
Weaver syndrome
Translocation renal cell carcinoma
B-cell chronic lymphocytic leukemia
Coffin-Siris syndrome
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Autosomal agammaglobulinemia
Familial prostate cancer
LEOPARD syndrome
Noonan syndrome
Trichothiodystrophy
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
MODY syndrome
Chronic myeloid leukemia
46,XX gonadal dysgenesis
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Alveolar rhabdomyosarcoma
Aneurysm - osteoarthritis syndrome
Autosomal dominant hyper-IgE syndrome
Craniopharyngioma
Desmoid tumor
Familial thoracic aortic aneurysm and aortic dissection
Hepatocellular carcinoma, childhood-onset
Mantle cell lymphoma
Multiple myeloma
Pilomatrixoma
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
5q35 microduplication syndrome
Beckwith-Wiedemann syndrome due to NSD1 mutation
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Familial isolated dilated cardiomyopathy
Familial retinoblastoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Monosomy 13q14
Primary peritoneal carcinoma
Sotos syndrome
Unilateral retinoblastoma
2q37 microdeletion syndrome
Familial amyloidosis, Finnish type
Fuchs endothelial corneal dystrophy
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Pallister-Hall syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
45,X / 46,XY mixed gonadal dysgenesis
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Familial rhabdoid tumor
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
Testicular regression syndrome
WAGR syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Cerebellar ataxia - hypogonadism
Distal 22q11.2 microdeletion syndrome
Myelofibrosis with myeloid metaplasia
Cytomegalic congenital adrenal hypoplasia
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Angelman syndrome
Intellectual deficit - sparse hair - brachydactyly
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Bannayan-Riley-Ruvalcaba syndrome
Catecholaminergic polymorphic ventricular tachycardia
Familial congenital mirror movements
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Chuvash erythrocytosis
Von Hippel-Lindau disease
Wolf-Hirschhorn syndrome
Young adult-onset Parkinsonism
Aromatic L-amino acid decarboxylase deficiency
Autosomal dominant progressive external ophthalmoplegia
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Acute myeloid leukemia with CEBPA somatic mutations
Ewing sarcoma
Extraskeletal Ewing sarcoma
Glucocorticoid resistance
Inherited acute myeloid leukemia
Peripheral primitive neuroectodermal tumor
Spinocerebellar ataxia type 17
Xeroderma pigmentosum complementation group B
Autosomal recessive spastic paraplegia type 30
Hereditary sensory and autonomic neuropathy type 2
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Capillary malformation - arteriovenous malformation
Juvenile myelomonocytic leukemia
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Metachondromatosis
Opsismodysplasia
PLCG2-associated antibody deficiency and immune dysregulation
Parkes Weber syndrome
Precursor T-cell acute lymphoblastic leukemia
SHORT syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to LCK deficiency
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
X-linked lymphoproliferative disease
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Pilocytic astrocytoma
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Familial multiple meningioma
Anaplastic ependymoma
Fraser syndrome
X-linked dystonia-parkinsonism
17q11 microdeletion syndrome
Acute promyelocytic leukemia
Adrenocortical carcinoma
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Floating-Harbor syndrome
Hereditary nonpolyposis colon cancer
Hydranencephaly
Li-Fraumeni syndrome
Microlissencephaly
Papilloma of choroid plexus
Pseudohyperaldosteronism type 2
Renal pseudohypoaldosteronism type 1
Reticulate acropigmentation of Kitamura
Xeroderma pigmentosum complementation group E
Alobar holoprosencephaly
Estrogen resistance syndrome
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
COFS syndrome
Xeroderma pigmentosum complementation group D
Autosomal recessive primary microcephaly
Hyperinsulinism due to HNF4A deficiency
Cabezas syndrome
Cleidocranial dysplasia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Isolated delta-storage pool disease
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Hamel cerebro-palato-cardiac syndrome
X-linked intellectual deficit, Golabi-Ito-Hall type
X-linked intellectual deficit, Porteous type
X-linked intellectual deficit, Sutherland-Haan type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
AR P10275313700
MAMLD1 Q13495300120
Very frequent
- Hypospadias / epispadias / bent penis