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SHORT syndrome
1 OMIM reference -
1 associated gene
225 connected diseases
40 signs/symptoms
Disease Type of connection
Autosomal agammaglobulinemia
Precursor B-cell acute lymphoblastic leukemia
Giant cell glioblastoma
Gliosarcoma
Acute myeloblastic leukemia with maturation
Precursor T-cell acute lymphoblastic leukemia
Familial thoracic aortic aneurysm and aortic dissection
Papillary or follicular thyroid carcinoma
Hepatocellular carcinoma, childhood-onset
Juvenile myelomonocytic leukemia
Hereditary nonpolyposis colon cancer
Noonan syndrome
Gastrointestinal stromal tumor
Idiopathic hypereosinophilic syndrome
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Cowden syndrome
Congenital pulmonary alveolar proteinosis
Pfeiffer syndrome type 1
Chronic myeloid leukemia
Loeys-Dietz syndrome type 1
Distal 22q11.2 microdeletion syndrome
Pilocytic astrocytoma
Familial medullary thyroid carcinoma
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Lethal congenital contracture syndrome type 2
CLOVE syndrome
Hemimegalencephaly
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Primary familial polycythemia
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Pilomatrixoma
Aleukemic mast cell leukemia
Bilateral striopallidodentate calcinosis
Bullous diffuse cutaneous mastocytosis
Chronic myelomonocytic leukemia
Classic mast cell leukemia
Cutaneous mastocytoma
Infantile myofibromatosis
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Myeloid neoplasm associated with PDGFRB rearrangement
Nodular urticaria pigmentosa
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Unclassified chronic myeloproliferative disease
Budd-Chiari syndrome
Costello syndrome
Essential thrombocythemia
Familial thrombocytosis
Linear nevus sebaceus syndrome
Myelofibrosis with myeloid metaplasia
Phakomatosis pigmentokeratotica
Polycythemia vera
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Laron syndrome
Severe combined immunodeficiency due to LCK deficiency
Short stature due to partial GHR deficiency
Growth delay due to insulin-like growth factor I resistance
Herpetic encephalitis
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Estrogen resistance syndrome
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
LEOPARD syndrome
Metachondromatosis
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Familial papillary renal cell carcinoma
Granulomatosis with polyangiitis
Hereditary gingival fibromatosis
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Septo-optic dysplasia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Posterior polar cataract
Total congenital cataract
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Autoimmune lymphoproliferative syndrome
Common variable immunodeficiency
Hyper-IgM syndrome type 3
Myeloid neoplasm associated with PDGFRA rearrangement
X-linked epilepsy - learning disabilities - behavior disorders
Huntington disease
Juvenile Huntington disease
Marfan syndrome type 2
Multiple keratoacanthoma, Ferguson-Smith type
Acute biphenotypic leukemia
Antley-Bixler syndrome
Apert syndrome
Complete androgen insensitivity syndrome
Crouzon disease
Cutis gyrata - acanthosis nigricans - craniosynostosis
FGFR2-related bent bone dysplasia
Familial hypospadias
Familial multiple nevi flammei
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Kennedy disease
Lacrimo-auriculo-dento-digital syndrome
Minimally differentiated acute myeloblastic leukemia
Opsismodysplasia
Partial androgen insensitivity syndrome
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Saethre-Chotzen syndrome
Sturge-Weber syndrome
Mucocutaneous venous malformations
Proteus syndrome
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Acute promyelocytic leukemia
Alobar holoprosencephaly
Atelosteogenesis type I
Atelosteogenesis type III
Athabaskan brainstem dysgenesis syndrome
Autoimmune polyendocrinopathy type 1
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Autosomal dominant Larsen syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2P
Boomerang dysplasia
Bosley-Salih-Alorainy syndrome
Choreoacanthocytosis
Chronic intestinal pseudoobstruction
Combined immunodeficiency due to ZAP70 deficiency
Congenital short bowel syndrome
Congenital stationary night blindness
Congenital valvular dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Early infantile epileptic encephalopathy
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome, dermatosparaxis type
Familial amyloid polyneuropathy
Fanconi anemia
Frontometaphyseal dysplasia
Hermansky-Pudlak syndrome type 7
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Inflammatory myofibroblastic tumor
Intellectual disability-developmental delay-contractures syndrome
Intermittent hydrarthrosis
Leigh syndrome with nephrotic syndrome
Lobar holoprosencephaly
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Monosomy 22q13
Muscle filaminopathy
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Neuroblastoma
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
PLCG2-associated antibody deficiency and immune dysregulation
Periventricular nodular heterotopia
Pseudohypoaldosteronism type 2E
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Sitosterolemia
Spondylocarpotarsal synostosis
TRAPS syndrome
Terminal osseous dysplasia - pigmentary defects
Thyrotoxic periodic paralysis
Transthyretin-related familial amyloid cardiomyopathy
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Bilateral renal agenesis
Bilateral renal dysplasia
Haddad syndrome
Hirschsprung disease
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Unilateral renal dysplasia
15q13.3 microdeletion syndrome
Amyotrophic lateral sclerosis
Athyreosis
Behavioral variant of frontotemporal dementia
Early-onset autosomal dominant Alzheimer disease
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial isolated dilated cardiomyopathy
Familial retinoblastoma
Hypothyroidism due to TSH receptor mutations
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Monosomy 13q14
Omenn syndrome
Progressive non-fluent aphasia
Semantic dementia
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Thyroid hypoplasia
Unilateral retinoblastoma
Synonym(s):
- Aarskog-Ose-Pande syndrome
- Lipodystrophy - Rieger anomaly - diabetes
- Rieger anomaly - partial lipodystrophy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537327
Gene symbol UniProt reference OMIM reference
PIK3R1 P27986171833
Very frequent
- Aniridia / iris hypoplasia
- Anterior chamber anomaly
- Autosomal dominant inheritance
- Deepset eyes / enophthalmos
- Hyperextensible joints / articular hyperlaxity
- Inguinal / inguinoscrotal / crural hernia
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism

Frequent
- Abnormal fat distribution / lipodystrophy
- Anomalies of teeth and dentition
- Complete / partial microdontia
- Diabetes mellitus
- Enamel anomaly
- Face / facial anomalies
- Glaucoma
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Insulin resistance
- Megalocornea
- Mid-facial hypoplasia / short / small midface
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Rippled skin
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Broad nasal root
- Clinodactyly of fifth finger
- Corneal clouding / opacity / vascularisation
- Embryotoxon
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Iridocorneal dysgenesis / iridogoniodysgenesis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myotonia
- Prominent supraorbital ridge
- Short hand / brachydactyly
- Telecanthus / canthal dystopy
- Triangular face
- Upper limb polydactyly / hexadactyly
- Urinary / renal lithiasis / kidney stones / nephritic colic