Abnormal facial shape, and Abdominal pain

Low match GRANGE SYNDROME; GRNG

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME; GRNG Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly, grange occlusive arterial syndrome;grange occlusive arterial syndrome; progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Hypertelorism
• Failure to thrive
• Abnormal facial shape

SOURCES: UMLS ORPHANET MONDO MESH SCTID OMIM

Low match SANDHOFF DISEASE

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE Is also known as gm2-gangliosidosis, type ii, hexosaminidases a and b deficiency;hexosaminidases a and b deficiency, infantile form; infantile gm2 gangliosidosis 0 variant

• Ataxia
• Muscle weakness
• Peripheral neuropathy
• Dysarthria
• Hyperreflexia

SOURCES: ICD10 OMIM ORPHANET

Low match RIDDLE SYNDROME

RIDDLE SYNDROME Is also known as radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties;rnf168 deficiency; radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Microcephaly
• Ataxia

SOURCES: MESH MONDO ORPHANET EFO OMIM UMLS DOID

Low match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type;sialuria, french type

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis

SOURCES: OMIM GARD MONDO ORPHANET DOID

Low match CUSHING DISEASE

Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma; pituitary corticotroph micro-adenoma; pituitary-dependent cushing syndrome

• Failure to thrive
• Cataract
• Myopathy
• Visual impairment
• Hypertension

SOURCES: ORPHANET SCTID

Low match PITUITARY ADENOMA 4, ACTH-SECRETING; PITA4

Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Mutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR ) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by Mete and Lopes, 2017).

PITUITARY ADENOMA 4, ACTH-SECRETING; PITA4 Is also known as cushing disease, pituitary

• Growth delay
• Cataract
• Muscle weakness
• Myopathy
• Neoplasm

SOURCES: ORPHANET MONDO OMIM NCIT

Low match FABRY DISEASE

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity of the lysosomal enzyme alpha-galactosidase A. This enzymatic defect leads to the systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes of vessels, nerves, tissues, and organs throughout the body (Nance et al., 2006). The disorder is a systemic disease, manifest as progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, and skin lesions, among other abnormalities (Schiffmann, 2009).An atypical variant of Fabry disease has been reported in which cardiac disease, specifically left ventricular hypertrophy, with or without renal failure, develops in the sixth decade of life. These patients have residual GLA activity (Nakao et al., 1995; Nakao et al., 2003).Although Fabry disease was previously considered to be an X-linked recessive disorder, Wang et al. (2007) found that heterozygous women with Fabry disease experience significant life-threatening conditions requiring medical treatment and intervention. Thus, heterozygous Fabry women should not be called carriers, as this term underestimates the seriousness of the disease in these patients.Clarke (2007) and Schiffmann (2009) provided detailed reviews of Fabry disease.

FABRY DISEASE Is also known as angiokeratoma corporis diffusum, anderson-fabry disease, hereditary dystopic lipidosis, alpha-galactosidase a deficiency, gla deficiency, ceramide trihexosidase deficiency;alpha-galactosidase a deficiency; anderson-fabry disease; angiokeratoma corporis diffusum; diffuse angiokeratoma; fd

• Seizures
• Short stature
• Pica
• Hearing impairment
• Sensorineural hearing impairment

SOURCES: ORPHANET DOID MESH SCTID ICD10 OMIM MONDO GARD NCIT

Low match BASAL CELL NEVUS SYNDROME; BCNS

BASAL CELL NEVUS SYNDROME; BCNS Is also known as gorlin syndrome, gorlin-goltz syndrome, nevoid basal cell carcinoma syndrome;nbccs, multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

• Autosomal dominant inheritance
• Intellectual disability
• Scoliosis
• Hypertelorism
• Micrognathia

SOURCES: MONDO DOID NCIT OMIM GARD

Low match TOWNES-BROCKS SYNDROME 1; TBS1

Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). Genetic Heterogeneity of Townes-Brocks SyndromeTownes-Brocks syndrome-2 (TBS2 ) is caused by mutation in the DACT1 gene (OMIM ) on chromosome 14q23.

TOWNES-BROCKS SYNDROME 1; TBS1 Is also known as renal-ear-anal-radial syndrome, rear syndrome, anus, imperforate, with hand, foot, and ear anomalies, deafness, sensorineural, with imperforate anus and thumb anomalies

• Autosomal dominant inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Pica

SOURCES: MESH MONDO OMIM GARD DOID NCIT

Low match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type, atr-x syndrome, atr, nondeletion type;atr-x syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: MESH NCIT UMLS ORPHANET MONDO SCTID GARD DOID OMIM