Failure to thrive, and Pruritus

Medium match PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3

Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3 Is also known as cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|mdr3 deficiency|pfic3

• Failure to thrive
• Hypertension
• Hepatomegaly
• Fever
• Diarrhea

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

• Generalized hypotonia
• Failure to thrive
• Muscle weakness
• Pain
• Motor delay

SOURCES: ORPHANET OMIM MENDELIAN

Medium match FAMILIAL HYPERCHOLANEMIA

Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.

FAMILIAL HYPERCHOLANEMIA Is also known as hereditary hypercholanemia

• Failure to thrive
• Abnormality of the liver
• Pruritus
• Malabsorption
• Hepatitis

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match MICROVILLUS INCLUSION DISEASE

Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.

MICROVILLUS INCLUSION DISEASE Is also known as mvid|congenital microvillus atrophy|microvillous inclusion disease|congenital microvillous atrophy|congenital familial protracted diarrhea with enterocyte brush-border abnormalities|intractable diarrhea of infancy|microvillus inclusion disease|davidson di

• Global developmental delay
• Growth delay
• Failure to thrive
• Diarrhea
• Polyhydramnios

SOURCES: OMIM ORPHANET MENDELIAN

Medium match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

• Short stature
• Neoplasm
• Failure to thrive
• Hepatomegaly
• Diarrhea

SOURCES: OMIM MENDELIAN

Medium match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3 Is also known as basd3|oxysterol 7-alpha-hydroxylase deficiency

• Failure to thrive
• Hepatomegaly
• Diarrhea
• Splenomegaly
• Jaundice

SOURCES: MESH OMIM ORPHANET MENDELIAN

Medium match EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY Is also known as mcgrath syndrome|ectodermal dysplasia-skin fragility syndrome

• Failure to thrive
• Immunodeficiency
• Alopecia
• Hyperhidrosis
• Hyperkeratosis

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989).Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' Genetic Heterogeneity of Benign Recurrent Intrahepatic CholestasisSee also BRIC2 (OMIM ), caused by mutation in the ABCB11 gene (OMIM ) on chromosome 2q24.

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 Is also known as summerskill syndrome

• Short stature
• Hearing impairment
• Neoplasm
• Failure to thrive
• Cognitive impairment

SOURCES: ORPHANET OMIM MENDELIAN

Medium match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1 Is also known as basd1|3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency

• Failure to thrive
• Peripheral neuropathy
• Hepatomegaly
• Diarrhea
• Splenomegaly

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match LARGE CONGENITAL MELANOCYTIC NEVUS

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

• Seizures
• Hypertelorism
• Neoplasm
• Failure to thrive
• Hydrocephalus

SOURCES: ORPHANET OMIM MENDELIAN