Abnormality of the skeletal system, and Hepatic failure

Diseases related with Abnormality of the skeletal system and Hepatic failure

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Hepatic failure that can help you solving undiagnosed cases.


Top matches:

Low match AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA


Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

Low match SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

Low match PEROXISOME BIOGENESIS DISORDER 7B; PBD7B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7B; PBD7B

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID


Deficiency of maleylacetoacetate isomerase (MAAID) is characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is differentiated from hepatorenal tyrosinemia (TYRSN1 ), which is also identified by hypersuccinylacetonemia on newborn screening but is a severe disorder with hepatic failure, renal tubulopathy, rickets, and porphyria-like neurologic crises. MAAID and TYRSN1 are caused by mutations in genes encoding the penultimate and ultimate enzymes, respectively, in the phenylalanine and tyrosine degradation pathway (summary by Yang et al., 2017).

MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID Is also known as mhsa|maai deficiency|bhsa|hypersuccinylacetonemia, mild|benign hypersuccinylacetonemia

Related symptoms:

  • Hepatic failure
  • Rickets
  • Hypertyrosinemia


SOURCES: OMIM MENDELIAN

More info about MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID

Low match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM


PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM Is also known as pepck2 deficiency|pck2 deficiency

Related symptoms:

  • Acidosis
  • Hypoglycemia
  • Lactic acidosis
  • Hepatic failure
  • Hepatic steatosis


SOURCES: OMIM MESH MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM

Low match HEPATITIS C VIRUS, SUSCEPTIBILITY TO


HCV, which is principally transmitted by blood, infects about 3% of the world's population. HCV infection causes acute hepatitis, which is self-resolving in 20 to 50% of cases but does not confer permanent immunity. In 50 to 80% of cases, HCV infection becomes chronic and results in chronic hepatitis, cirrhosis, and hepatocellular carcinoma. As a result, HCV infection is a leading killer worldwide and the most common cause of liver failure in the U.S. HCV is opportunistic in individuals infected with human immunodeficiency virus (HIV; see {609423}), approximately 25% of whom are coinfected with HCV. HCV infection is also associated with cryoglobulinemia (see {123550}), a B-lymphocyte proliferative disorder (Pawlotsky, 2004; Chisari (2005); Pileri et al., 1998).

HEPATITIS C VIRUS, SUSCEPTIBILITY TO Is also known as hcv, susceptibility to

Related symptoms:

  • Immunodeficiency
  • Carcinoma
  • Cirrhosis
  • Hepatic failure
  • Hepatitis


SOURCES: OMIM MENDELIAN

More info about HEPATITIS C VIRUS, SUSCEPTIBILITY TO

Low match PANCREATIC AGENESIS 2; PAGEN2


PANCREATIC AGENESIS 2; PAGEN2 Is also known as pancreatic hypoplasia, congenital 2

Related symptoms:

  • Global developmental delay
  • Diabetes mellitus
  • Small for gestational age
  • Hepatic failure
  • Type I diabetes mellitus


SOURCES: OMIM MENDELIAN

More info about PANCREATIC AGENESIS 2; PAGEN2

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6


Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by Gaignard et al., 2013).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Encephalopathy
  • Acidosis
  • Elevated hepatic transaminase
  • Lactic acidosis
  • Hepatic failure


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6

Low match PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2


Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2 Is also known as pfic2|bsep deficiency

Related symptoms:

  • Hepatomegaly
  • Jaundice
  • Hepatosplenomegaly
  • Pruritus
  • Hepatic failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2

Low match ORNITHINE TRANSCARBAMYLASE DEFICIENCY


Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY Is also known as oct deficiency|ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Splenomegaly
  • Hypoglycemia
  • Hepatic failure
  • Aminoaciduria
  • Hyperammonemia


SOURCES: ORPHANET MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Hepatic failure

Symptoms // Phenotype % cases
Hyperammonemia Uncommon - Between 30% and 50% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Lactic acidosis Rare - less than 30% cases
Acidosis Rare - less than 30% cases
Acute hepatic failure Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormality of the skeletal system and Hepatic failure. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Elevated hepatic transaminase Jaundice Encephalopathy Steatorrhea Cholelithiasis Decreased liver function Cirrhosis Pruritus Global developmental delay Type I diabetes mellitus Small for gestational age Abnormality of mitochondrial metabolism Diabetes mellitus Acute hepatitis Pancreatic hypoplasia Cryoglobulinemia Coma Increased serum lactate Progressive neurologic deterioration Hepatomegaly Hyperglycemia Ketoacidosis Episodic ketoacidosis Metabolic ketoacidosis Hepatocellular carcinoma Hepatosplenomegaly Cholestasis Elevated alkaline phosphatase Intrahepatic cholestasis Conjugated hyperbilirubinemia Portal fibrosis Splenomegaly Aminoaciduria Chronic hepatitis Edema Hepatitis Generalized hypotonia Eczema Cutaneous photosensitivity Microcytic anemia Abnormality of the heme biosynthetic pathway Seizures Cardiomyopathy Vomiting Lethargy Abnormality of the coagulation cascade Abnormality of the gastrointestinal tract Hepatic encephalopathy Hearing impairment Carcinoma Sensorineural hearing impairment Visual impairment Neonatal hypotonia Retinal dystrophy Rickets Hypertyrosinemia Erythema Hepatic steatosis Renal steatosis Impaired gluconeogenesis Immunodeficiency Pyloric stenosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Bruising susceptibility, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more