Microphthalmia, and Hyperlipidemia

Diseases related with Microphthalmia and Hyperlipidemia

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

Top matches:

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB Is also known as lipodystrophy, type b, associated with mandibuloacral dysplasia

Related symptoms:

  • Growth delay
  • Micrognathia
  • Flexion contracture
  • High palate
  • Abnormality of the skeletal system


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Other less relevant matches:

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-hÜnermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

HYPERLIPIDEMIA, COMBINED, 1 Is also known as hyplip1|hyperlipidemia, familial combined, 1|fchl1

Related symptoms:

  • Hyperlipidemia
  • Abnormality of lipid metabolism


SOURCES: MESH OMIM MENDELIAN

More info about HYPERLIPIDEMIA, COMBINED, 1

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Low match NANOPHTHALMIA

Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.

Related symptoms:

  • Strabismus
  • Microphthalmia
  • Glaucoma
  • Abnormality of retinal pigmentation
  • High hypermetropia


SOURCES: ORPHANET MENDELIAN

More info about NANOPHTHALMIA

Top 5 symptoms//phenotypes associated to Microphthalmia and Hyperlipidemia

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microphthalmia and Hyperlipidemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Anemia Fever Edema Thrombocytopenia Abnormally large globe Nystagmus Strabismus Global developmental delay Glaucoma Flexion contracture Frontal bossing

Rare Symptoms - Less than 30% cases

Macrocephaly Hyperpigmentation of the skin Lymphadenopathy Camptodactyly of finger Erythema Arthritis Hepatosplenomegaly Osteopenia Macrotia Arrhythmia Recurrent infections Hyperaldosteronism Splenomegaly Polyhydramnios Skeletal muscle atrophy Intellectual disability, moderate Hepatomegaly Patellar dislocation Pain Abnormality of epiphysis morphology Depressivity Generalized hypotonia Finger swelling Dehydration Scoliosis Constipation Acidosis Generalized hypopigmentation Periodontitis Gingivitis Skin ulcer Amblyopia Abnormal bleeding Paresthesia Cataract Nephrocalcinosis Reduced visual acuity Recurrent respiratory infections Micrognathia Areflexia Hypercalciuria Hypokalemia Visual impairment Abnormality of the dentition Kyphosis Hyporeflexia Growth delay Abnormality of hair texture Glucose intolerance Postnatal growth retardation Alopecia Generalized lipodystrophy Lipodystrophy Joint stiffness Sparse hair Dental crowding Full cheeks Hypercholesterolemia Premature birth Abnormality of the skeletal system Feeding difficulties in infancy Low-set, posteriorly rotated ears Fetal polyuria Gastroesophageal reflux Umbilical hernia Thin upper lip vermilion EEG abnormality Anxiety Aggressive behavior Renal potassium wasting Deeply set eye Proteinuria Neonatal hypotonia Increased urinary potassium Irritability Elevated amniotic fluid alpha-fetoprotein Protruding ear Hyposthenuria Increased serum lactate Recurrent fractures Delayed eruption of teeth Metabolic acidosis Everted lower lip vermilion Hematuria Joint hypermobility Long face Joint hyperflexibility Hypochloremia Attention deficit hyperactivity disorder Genu valgum Delayed puberty Carious teeth Malabsorption Congenital cataract Platyspondyly Hip dislocation Upslanted palpebral fissure Corneal opacity Mandibular prognathia Behavioral abnormality Hyperactive renin-angiotensin system Concave nasal ridge Hyperkeratosis with erythema Vertebral wedging Abnormality of retinal pigmentation Patchy alopecia Hemiatrophy Scarring alopecia of scalp Butterfly vertebrae Dry hair Tracheal stenosis Punctate vertebral calcifications Foot polydactyly Epiphyseal stippling High hypermetropia Congenital ichthyosiform erythroderma Aplasia/Hypoplasia of the skin Bilateral talipes equinovarus Erythroderma Abnormality of the thorax Tracheal calcification Elevated 8-dehydrocholesterol Inguinal hernia Feeding difficulties Renal insufficiency Long philtrum Hypokalemic alkalosis Blindness Respiratory insufficiency Hyperchloriduria Ventriculomegaly Motor delay Cognitive impairment Low-to-normal blood pressure Cryptorchidism Hyperprostaglandinuria Coloboma Abnormality of lipid metabolism Increased serum prostaglandin E2 Stippled calcification in carpal bones Renal juxtaglomerular cell hypertrophy/hyperplasia Tarsal stippling Elevated 8(9)-cholestenol Aciduria Sparse scalp hair Hypokalemic metabolic alkalosis Abnormal pupil morphology Ventricular arrhythmia Polydipsia Keloids Cheilitis Polyuria Abnormality of the renal tubule Hyperkalemia Lacrimation abnormality Buphthalmos Urogenital fistula Hyperphosphaturia Atelectasis Hyperthyroidism Renal tubular dysfunction Taurodontia Hypomagnesemia Atypical scarring of skin Multiple renal cysts Joint swelling Renal Fanconi syndrome Triangular face Osteomalacia Hypoammonemia Benign neoplasm of the central nervous system Elevated serum acid phosphatase Odontogenic neoplasm Elevated maternal serum alpha-fetoprotein Bicarbonaturia Abnormality of dentin Abnormality of calcium-phosphate metabolism Lentiglobus Wrist swelling Dense posterior cortical cataract Proximal renal tubular acidosis Vomiting Diarrhea Chorioretinal dysplasia Oligosacchariduria Prominent forehead Small for gestational age Muscle cramps Generalized muscle weakness Vitamin D deficiency Renal tubular acidosis Glomerulopathy Abnormality of the ribs Joint contracture of the hand Neoplasm of the skin Increased circulating renin level Hypocalciuria Pseudohypoaldosteronism Azoospermia Abnormality of dental enamel Aminoaciduria Narrow palate Clonus Deep philtrum Stereotypy Nephrolithiasis Hypoplasia of dental enamel Subcutaneous nodule Abnormality of the metaphysis Open mouth Osteoarthritis Periventricular cysts Fine hair Reduced number of teeth Impaired platelet aggregation Abnormal joint morphology Hyponatremia Hyperparathyroidism Pathologic fracture Congenital glaucoma Dysphasia Hypophosphatemia Open bite Diabetes insipidus Flat occiput Obsessive-compulsive behavior Chronic otitis media Abnormality of the voice Renal salt wasting Self-injurious behavior Coarse hair Alkalosis Glomerulonephritis Chondrocalcinosis Rickets Tetany Metabolic alkalosis Scaling skin Short neck Abnormality of pelvic girdle bone morphology Scarring Lymphopenia Bone pain Thick lower lip vermilion Cardiomegaly Prominent nose Macroglossia Inability to walk Skin rash Abnormality of the liver Conjunctivitis Elevated hepatic transaminase Arthralgia Hyperhidrosis Babinski sign Intellectual disability, mild Congestive heart failure Muscle weakness Facial shape deformation Decreased adipose tissue around neck Elbow flexion contracture Growth abnormality Loss of truncal subcutaneous adipose tissue Hypochromic anemia Tremor Peripheral neuropathy Neoplasm Ataxia Adipose tissue loss Stiff skin Episcleritis Panniculitis Erythema nodosum Flexion contracture of toe Increased antibody level in blood Immune dysregulation Clubbing of fingers Myositis Rimmed vacuoles Basal ganglia calcification Microcytic anemia Elevated erythrocyte sedimentation rate Hypermelanotic macule Long fingers Abnormal tongue morphology Increased circulating free fatty acid level Atrial septal defect Short phalanx of finger Hyperglycemia Brittle hair Hyperinsulinemia Dermal atrophy Acanthosis nigricans Short chin Wormian bones Insulin resistance Thin skin Lipoatrophy Epidermal acanthosis Convex nasal ridge Nail dysplasia Abnormality of skin pigmentation Retrognathia Proptosis Narrow mouth Short nose High palate Delayed cranial suture closure Short clavicles Increased subcutaneous truncal adipose tissue Contractures of the large joints Reduced intrathoracic adipose tissue Prominent superficial blood vessels Progressive clavicular acroosteolysis Acroosteolysis of distal phalanges (feet) Increased intraabdominal fat Increased adipose tissue around the neck Loss of facial adipose tissue Osteolytic defects of the distal phalanges of the hand Bird-like facies Mottled pigmentation Insulin-resistant diabetes mellitus Loss of subcutaneous adipose tissue in limbs Narrow nasal ridge Poor wound healing Hypoplasia of teeth Abnormality of the neck Hypoplastic fingernail Osteolytic defects of the phalanges of the hand Narrow nose Premature loss of teeth Gait disturbance Cerebellar atrophy Sparse eyelashes Generalized hypopigmentation of hair Malar flattening Talipes equinovarus Downslanted palpebral fissures Optic atrophy Epicanthus Ptosis Sensorineural hearing impairment Hearing impairment Recurrent systemic pyogenic infections Clinodactyly of the 5th finger Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Midface retrusion Polydactyly Progressive peripheral neuropathy Esotropia Abnormality of the fingernails Joint dislocation Hemivertebrae Sparse and thin eyebrow Abnormal vertebral morphology Rhizomelia Limb undergrowth Dandy-Walker malformation Hip dysplasia Microcornea Hyperkeratosis Postaxial polydactyly Flat face Ichthyosis Talipes Abnormality of the pinna Abnormality of the nervous system Hydronephrosis Skeletal dysplasia Kyphoscoliosis Hypersplenism Hemophagocytosis Immunodeficiency Paraplegia Brain atrophy Parkinsonism Hypopigmentation of the skin Neutropenia Neurodegeneration Sensory neuropathy Bruising susceptibility Falls Peripheral axonal neuropathy Abnormality of movement Gastrointestinal hemorrhage Spastic paraplegia Leukemia Developmental regression Abnormality of the eye Mental deterioration Rigidity Photophobia Difficulty walking Jaundice Lymphoma Peripheral demyelination Spinocerebellar tract degeneration Albinism White hair Fair hair Iris hypopigmentation Gingival bleeding Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Melanocytic nevus Bradykinesia Decreased nerve conduction velocity Abnormality of vision Cranial nerve paralysis Leukopenia Foot dorsiflexor weakness Cutaneous photosensitivity Epistaxis Pancytopenia Abnormality of extrapyramidal motor function Abnormal choroid morphology


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Clinodactyly, related diseases and genetic alterations Autoimmunity and Psoriasiform dermatitis, related diseases and genetic alterations Peripheral neuropathy and Ptosis, related diseases and genetic alterations Scoliosis and Iris coloboma, related diseases and genetic alterations Ataxia and Hepatomegaly, related diseases and genetic alterations Generalized hypotonia and Cardiomyopathy, related diseases and genetic alterations