Cataract, and Cholestasis

Diseases related with Cataract and Cholestasis

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


Top matches:

Low match GALACTOKINASE DEFICIENCY


Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

GALACTOKINASE DEFICIENCY Is also known as galactosemia type 2|galk deficiency|galactokinase deficiency galactosemia|galk-d|galactosemia ii

Related symptoms:

  • Intellectual disability
  • Cataract
  • Hypogonadism
  • Hypergonadotropic hypogonadism
  • Hyperbilirubinemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOKINASE DEFICIENCY

Low match PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A

Low match GALACTOSE EPIMERASE DEFICIENCY


Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as udp-galactose-4-epimerase deficiency|gale deficiency|galactosemia iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSE EPIMERASE DEFICIENCY

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Other less relevant matches:

Low match PEROXISOME BIOGENESIS DISORDER 10B; PBD10B


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Cataract


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10B; PBD10B

Low match CLASSIC GALACTOSEMIA


Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Low match MEDNIK SYNDROME


MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

Low match PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Cholestasis

Symptoms // Phenotype % cases
Jaundice Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Cholestasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Nystagmus Impairment of galactose metabolism High forehead Feeding difficulties

Rare Symptoms - Less than 30% cases


Low-set ears Nausea and vomiting Hyperreflexia Posteriorly rotated ears Weight loss Splenomegaly Spastic paraplegia Sensorineural hearing impairment Failure to thrive Ataxia Hearing impairment Growth delay Generalized neonatal hypotonia Hypergalactosemia Epiphyseal stippling Muscular hypotonia Galactosuria Hyperbilirubinemia Prolonged neonatal jaundice Short stature Cardiorespiratory arrest Bilateral talipes equinovarus Abnormal intestine morphology Flat occiput Erythroderma Congenital sensorineural hearing impairment Intrahepatic cholestasis Severe muscular hypotonia Talipes equinovarus Polymicrogyria Hypocupremia Flat face Talipes Long philtrum Decreased serum ceruloplasmin High palate Microcephaly Macrotia Spasticity Hemolytic anemia Hypoglycorrhachia Zonular cataract Hemoglobinuria Stomatocytosis Conjugated hyperbilirubinemia Broad neck Hyperkalemia Delayed myelination Inability to walk Anemia Paraplegia Hepatosplenomegaly Absent speech Hypertonia Hydrocephalus Macrocephaly Brachydactyly Hepatic fibrosis Abnormality of movement Cirrhosis Intellectual disability, severe Nephrocalcinosis Paraparesis Muscular hypotonia of the trunk Delayed gross motor development Aminoaciduria Aciduria Vomiting Delayed speech and language development Inverted nipples Glossoptosis Severe global developmental delay Feeding difficulties in infancy Ventricular septal defect Presenile cataracts Increased intracranial pressure Hypergonadotropic hypogonadism Hypogonadism Spastic paraparesis Neurogenic bladder Ichthyosis Abnormality of the ovary Erythema Hyperkeratosis Upslanted palpebral fissure Diarrhea Peripheral neuropathy Speech articulation difficulties Decreased fertility in females Speech apraxia Dysarthria Sepsis Abnormal bleeding Hepatic failure Lethargy Hypoglycemia Osteoporosis Gait disturbance Tremor Abnormality of metabolism/homeostasis



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