Failure to thrive, and Pruritus

Diseases related with Failure to thrive and Pruritus

In the following list you will find some of the most common rare diseases related to Failure to thrive and Pruritus that can help you solving undiagnosed cases.


Top matches:

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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL HYPERCHOLANEMIA

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Other less relevant matches:

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROVILLUS INCLUSION DISEASE

Medium match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

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

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3

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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Top 5 symptoms//phenotypes associated to Failure to thrive and Pruritus

Symptoms // Phenotype % cases
Diarrhea Common - Between 50% and 80% cases
Cholestasis Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Malabsorption Uncommon - Between 30% and 50% cases
Intrahepatic cholestasis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Failure to thrive and Pruritus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Splenomegaly Hepatitis Jaundice Abnormality of the liver Elevated hepatic transaminase Abnormality of the coagulation cascade Steatorrhea Neoplasm Hepatosplenomegaly Abnormality of coagulation Hepatic failure

Rare Symptoms - Less than 30% cases


Gastrointestinal hemorrhage Intermittent jaundice Conjugated hyperbilirubinemia Elevated alkaline phosphatase Biliary tract abnormality Short stature Increased serum bile acid concentration Fat malabsorption Acholic stools Rickets Giant cell hepatitis Neonatal cholestatic liver disease Peripheral neuropathy Hyperhidrosis Osteoporosis Broad forehead Prominent forehead Long philtrum Short nose Hydrocephalus Hypertelorism Seizures Hypocholesterolemia Hyperbilirubinemia Abnormal bleeding Nyctalopia Pain insensitivity Papule Abnormal thrombocyte morphology Biliary cirrhosis Reduced bone mineral density Pancreatitis Hypocalcemia Delayed skeletal maturation Cognitive impairment Hearing impairment Furrowed tongue Woolly hair Abnormal eyebrow morphology Intrahepatic cholestasis with episodic jaundice Everted lower lip vermilion Abnormality of skin pigmentation Melanocytic nevus Congenital giant melanocytic nevus Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Narrow nasal ridge Thick hair Rhabdomyosarcoma Periorbital fullness Calvarial skull defect Narrow nasal bridge Hypermelanotic macule Deep philtrum Blepharitis Sarcoma Melanoma Hypopigmented skin patches Neoplasm of the skin Generalized hirsutism Subcutaneous nodule Open mouth Round face Nevus Full cheeks Broad nasal tip Absent eyelashes Skin vesicle Fragile skin Dehydration Dystonia Abnormality of small intestinal villus morphology Abnormal delivery Intractable diarrhea Protracted diarrhea Hypovolemia Abnormal renal physiology Villous atrophy Malnutrition Abnormal intestine morphology Nephrocalcinosis Sepsis Coma Abdominal distention Metabolic acidosis Polyhydramnios Growth delay Global developmental delay Constipation Vitamin K deficiency Chronic hepatitis Abnormal autonomic nervous system physiology Joint dislocation Axonal loss Carcinoma Motor delay Chronic constipation Erythema Epiphora Scaling skin Palmoplantar hyperkeratosis Abnormality of the nail Skin ulcer Chronic diarrhea Abnormal blistering of the skin Ectodermal dysplasia Palmoplantar keratoderma Dry skin Hypotrichosis Hyperkeratosis Hepatocellular carcinoma Alopecia Immunodeficiency Hypertension Fever Portal hypertension Congenital hepatic fibrosis Bile duct proliferation Portal fibrosis Generalized hypotonia Muscle weakness Pain Nevus spillus



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